### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PTPN11)
# charset = UTF-8
## Genes ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}"
"PTPN11" "protein tyrosine phosphatase, non-receptor type 11" "12" "q24.1" "unknown" "NG_007459.1" "UD_132118568644" "" "https://www.LOVD.nl/PTPN11" "" "1" "9644" "5781" "176876" "1" "1" "1" "1" "We gratefully acknowledge the efforts of Gerard Schaafsma, curating this database until 2021.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-06-27 16:01:08" "00000" "2025-07-08 13:22:38"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00017145" "PTPN11" "protein tyrosine phosphatase, non-receptor type 11" "001" "NM_002834.3" "" "NP_002825.3" "" "" "" "-380" "5903" "1782" "112856536" "112947717" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 22
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00132" "MDS" "myelodysplastic syndrome (MDS)" "SMo" "614286" "" "" "" "00006" "2013-05-17 15:26:22" "00006" "2024-05-24 16:19:35"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00180" "RRS" "Robinow syndrome, autosomal recessive (RRS)" "AD" "" "" "" "" "00115" "2013-08-28 18:26:52" "00006" "2021-12-10 21:51:32"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00382" "MCAP" "megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (MCAP)" "" "602501" "" "" "" "00008" "2014-05-14 14:25:00" "00006" "2015-12-07 07:11:25"
"00383" "NS" "Noonan syndrome (NS)" "" "" "" "autosomal dominant" "" "00008" "2014-05-14 14:26:30" "00006" "2021-12-10 21:51:32"
"00678" "NSLL" "Noonan syndrome-like disorder with/without juvenile meylomonocytic leukemia (NSLL)" "AD" "613563" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"00703" "LPRD1" "LEOPARD syndrome, type 1 (LPRD-1)" "AD" "151100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"00704" "JMML;CMML" "leukemia, juvenile myelomonocytic (JMML, leukemia, chronic myelomonocytic (CMML))" "AD;SMu" "607785" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"00705" "METCDS" "metachondromatosis (METCDS)" "AD" "156250" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-12-16 18:57:59"
"00908" "AML" "leukemia, myeloid, acute (AML)" "" "601626" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05"
"00933" "-" "leukemia, acute, lymphoblastic" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-03-27 17:14:06"
"01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23"
"01545" "RMSE2" "rhabdomyosarcoma, embryonal, type 2 (RMSE-2)" "" "180295" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00"
"05106" "MPD" "myopathy, distal (MPD)" "" "" "" "" "" "00006" "2015-12-08 01:43:19" "" ""
"05441" "NS1" "Noonan syndrome, type 1 (NS1)" "AD" "163950" "" "autosomal dominant" "" "00006" "2018-06-20 14:58:17" "00006" "2021-12-10 21:51:32"
"05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" ""
"05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21"
"06297" "FFEVF3" "Epilepsy, familial focal, with variable foci 3" "AD" "617118" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
"06877" "DFNA" "deafness, nonsyndromic (DFNA, autosomal dominant)" "" "" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 11
"{{geneid}}" "{{diseaseid}}"
"PTPN11" "00132"
"PTPN11" "00139"
"PTPN11" "00383"
"PTPN11" "00703"
"PTPN11" "00704"
"PTPN11" "00705"
"PTPN11" "00908"
"PTPN11" "00933"
"PTPN11" "01545"
"PTPN11" "05106"
"PTPN11" "05441"
## Individuals ## Do not remove or alter this header ##
## Count = 308
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}"
"00016593" "" "" "" "1" "" "00708" "{PMID:Döcker 2015:24939587}, {DOI:Döcker 2015:10.1038/ejhg.2014.118}" "" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "patient"
"00043985" "" "" "" "1" "" "00034" "" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00043986" "" "" "" "1" "" "00034" "" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00043987" "" "" "" "1" "" "00034" "" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00043988" "" "" "" "1" "" "00034" "" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00043989" "" "" "" "1" "" "00034" "" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00043990" "" "" "" "1" "" "00034" "" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00050594" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00050645" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00079904" "" "" "" "1" "" "01742" "{PMID:Carapito 2014:24225993}" "" "F" "no" "(France)" "" "0" "" "" "" ""
"00079905" "" "" "" "1" "" "01742" "{PMID:Chen 2009:19927903}" "fetus" "" "" "" "" "0" "" "" "" ""
"00079906" "" "" "" "1" "" "01742" "{PMID:Atik 2016:26817465}" "" "F" "" "(Turkey)" "" "0" "" "" "" ""
"00079907" "" "" "" "1" "" "01742" "{PMID:Ko 2008:19020799}" "" "" "" "Korea" "" "0" "" "" "" ""
"00080194" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080195" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080196" "" "" "" "1" "" "00002" "{PMID:Zenker, M (2004):15001945}" "" "" "?" "" "" "0" "" "" "" ""
"00080197" "" "" "" "1" "" "00002" "{PMID:Zenker, M (2004):15001945}" "" "" "?" "" "" "0" "" "" "" ""
"00080198" "" "" "" "1" "" "00002" "{PMID:Musante, L (2003):12634870}" "" "" "?" "" "" "0" "" "" "" ""
"00080199" "" "" "" "1" "" "00002" "{PMID:Sarkozy, A (2003):12960218}" "atrioventricular septal defect" "" "?" "" "" "0" "" "" "" ""
"00080200" "" "" "" "1" "" "00002" "{PMID:Sarkozy, A (2003):12960218}" "hypertrophic cardiomyopathy" "" "?" "" "" "0" "" "" "" ""
"00080201" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080202" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080203" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080204" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080205" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080206" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080207" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080208" "" "" "" "1" "" "00002" "{PMID:Loh, M. L (2004):14644997}" "" "" "?" "" "" "0" "" "" "" ""
"00080209" "" "" "" "1" "" "00002" "{PMID:Loh, M. L (2004):14644997}" "" "" "?" "" "" "0" "" "" "" ""
"00080210" "" "" "" "1" "" "00002" "{PMID:Musante, L (2003):12634870}" "" "" "?" "" "" "0" "" "" "" ""
"00080211" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2001):11704759}" "" "" "?" "" "" "0" "" "" "" ""
"00080212" "" "" "" "1" "" "00002" "{PMID:Zenker, M (2004):15001945}" "" "" "?" "" "" "0" "" "" "" ""
"00080213" "" "" "" "1" "" "00002" "{PMID:Schollen, E (2003):12529711}" "" "" "?" "" "" "0" "" "" "" ""
"00080214" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080215" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080216" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2001):11704759}" "" "" "?" "" "" "0" "" "" "" ""
"00080217" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080218" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080219" "" "" "" "1" "" "00002" "{PMID:Zenker, M (2004):15001945}" "" "" "?" "" "" "0" "" "" "" ""
"00080220" "" "" "" "1" "" "00002" "{PMID:Zenker, M (2004):15001945}" "" "" "?" "" "" "0" "" "" "" ""
"00080221" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080222" "" "" "" "1" "" "00002" "{PMID:Musante, L (2003):12634870}" "" "" "?" "" "" "0" "" "" "" ""
"00080223" "" "" "" "1" "" "00002" "{PMID:Maheshwari, M (2002):12325025}" "" "" "?" "" "" "0" "" "" "" ""
"00080224" "" "" "" "1" "" "00002" "{PMID:Maheshwari, M (2002):12325025}" "" "" "?" "" "" "0" "" "" "" ""
"00080225" "" "" "" "1" "" "00002" "{PMID:Zenker, M (2004):15001945}" "" "" "?" "" "" "0" "" "" "" ""
"00080226" "" "" "" "1" "" "00002" "{PMID:Kosaki, K (2002):12161469}" "" "" "?" "" "" "0" "" "" "" ""
"00080227" "" "" "" "1" "" "00002" "{PMID:Musante, L (2003):12634870}" "" "" "?" "" "" "0" "" "" "" ""
"00080228" "" "" "" "1" "" "00002" "{PMID:Musante, L (2003):12634870}" "" "" "?" "" "" "0" "" "" "" ""
"00080229" "" "" "" "1" "" "00002" "{PMID:Musante, L (2003):12634870}" "" "" "?" "" "" "0" "" "" "" ""
"00080230" "" "" "" "1" "" "00002" "{PMID:Sarkozy, A (2003):12960218}" "Symptoms: atrioventricular septal defect" "" "?" "" "" "0" "" "" "" ""
"00080231" "" "" "" "1" "" "00002" "{PMID:Zenker, M (2004):15001945}" "" "" "?" "" "" "0" "" "" "" ""
"00080232" "" "" "" "1" "" "00002" "{PMID:Sarkozy, A (2003):12960218}" "Symptoms: pulmonary valve stenosis (familial)" "" "?" "" "" "0" "" "" "" ""
"00080233" "" "" "" "1" "" "00002" "{PMID:Sarkozy, A (2003):12960218}" "Symptoms: atrial septal defect" "" "?" "" "" "0" "" "" "" ""
"00080234" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080235" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080236" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080237" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080238" "" "" "" "1" "" "00002" "{PMID:Kosaki, K (2002):12161469}" "" "" "?" "" "" "0" "" "" "" ""
"00080239" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2001):11704759}" "" "" "?" "" "" "0" "" "" "" ""
"00080240" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080241" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080242" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080243" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080244" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080245" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080246" "" "" "" "1" "" "00002" "{PMID:Sarkozy, A (2003):12960218}" "Symptoms: pulmonary valve stenosis" "" "?" "" "" "0" "" "" "" ""
"00080247" "" "" "" "1" "" "00002" "{PMID:Sarkozy, A (2003):12960218}" "Symptoms: pulmonary valve stenosis" "" "?" "" "" "0" "" "" "" ""
"00080248" "" "" "" "1" "" "00002" "{PMID:Loh, M. L (2004):14644997}" "" "" "?" "" "" "0" "" "" "" ""
"00080249" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080250" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080251" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080252" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080253" "" "" "" "1" "" "00002" "{PMID:Yamamoto, T (2006):16533526}" "" "" "?" "" "" "0" "" "" "" ""
"00080254" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080255" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080256" "" "" "" "1" "" "00002" "{PMID:Hou, H. A (2007):17972951}" "" "M" "?" "" "" "0" "" "" "" ""
"00080257" "" "" "" "1" "" "00002" "{PMID:Hou, H. A (2007):17972951}" "" "M" "?" "" "" "0" "" "" "" ""
"00080258" "" "" "" "1" "" "00002" "{PMID:Hou, H. A (2007):17972951}" "" "M" "?" "" "" "0" "" "" "" ""
"00080259" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080260" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080261" "" "" "" "1" "" "00002" "{PMID:Hou, H. A (2007):17972951}" "" "M" "?" "" "" "0" "" "" "" ""
"00080262" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080263" "" "" "" "1" "" "00002" "{PMID:Hou, H. A (2007):17972951}" "" "M" "?" "" "" "0" "" "" "" ""
"00080264" "" "" "" "1" "" "00002" "{PMID:Sarkozy, A (2003):12960218}" "Symptoms: pulmonary valve stenosis; atrial septal defect" "" "?" "" "" "0" "" "" "" ""
"00080265" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080266" "" "" "" "1" "" "00002" "{PMID:Loh, M. L (2004):14644997}" "" "" "?" "" "" "0" "" "" "" ""
"00080267" "" "" "" "1" "" "00002" "{PMID:Musante, L (2003):12634870}" "" "" "?" "" "" "0" "" "" "" ""
"00080268" "" "" "" "1" "" "00002" "{PMID:Musante, L (2003):12634870}" "" "" "?" "" "" "0" "" "" "" ""
"00080269" "" "" "" "1" "" "00002" "{PMID:Maheshwari, M (2002):12325025}" "" "" "?" "" "" "0" "" "" "" ""
"00080270" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080271" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080272" "" "" "" "1" "" "00002" "{PMID:Zenker, M (2004):15001945}" "" "" "?" "" "" "0" "" "" "" ""
"00080273" "" "" "" "1" "" "00002" "{PMID:Zenker, M (2004):15001945}" "" "" "?" "" "" "0" "" "" "" ""
"00080274" "" "" "" "1" "" "00002" "{PMID:Becker, K (2007):17497712}" "Relative in Description of pedigree:A0234: daughter" "M" "?" "" "" "0" "" "" "" ""
"00080275" "" "" "" "1" "" "00002" "{PMID:Flotho, C (2007):17353900}" "" "M" "?" "" "" "0" "" "" "" ""
"00080276" "" "" "" "1" "" "00002" "{PMID:Flotho, C (2007):17353900}" "" "M" "?" "" "" "0" "" "" "" ""
"00080277" "" "" "" "1" "" "00002" "{PMID:Kosaki, K (2002):12161469}" "" "" "?" "" "" "0" "" "" "" ""
"00080278" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2001):11704759}" "" "" "?" "" "" "0" "" "" "" ""
"00080279" "" "" "" "1" "" "00002" "{PMID:Paulsson, K (2008):17910045}" "" "F" "?" "" "" "0" "" "" "" ""
"00080280" "" "" "" "1" "" "00002" "{PMID:Becker, K (2007):17497712}" "Relative in Description of pedigree:A0233: father; The patient was a fetus, demised at the age of 12 weeks. The DNA analysis from autopsy fetal muscle confirmed compound heterozygosity for the parental Y63C and N308S mutations." "F" "?" "" "" "0" "" "" "" ""
"00080281" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080282" "" "" "" "1" "" "00002" "{PMID:Zenker, M (2004):15001945}" "" "" "?" "" "" "0" "" "" "" ""
"00080283" "" "" "" "1" "" "00002" "{PMID:Chen, Y (2006):16518851}" "" "" "?" "" "" "0" "" "" "" ""
"00080284" "" "" "" "1" "" "00002" "{PMID:Paulsson, K (2008):17910045}" "" "M" "?" "" "" "0" "" "" "" ""
"00080285" "" "" "" "1" "" "00002" "{PMID:Sarkozy, A (2003):12960218}" "Symptoms: hypertrophic cardiomyopathy; mitral valve anomaly" "" "?" "" "" "0" "" "" "" ""
"00080286" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080287" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2001):11704759}" "" "" "?" "" "" "0" "" "" "" ""
"00080288" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080289" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080290" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080291" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080292" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080293" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080294" "" "" "" "1" "" "00002" "{PMID:Loh, M. L (2004):14644997}" "" "" "?" "" "" "0" "" "" "" ""
"00080295" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080296" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080297" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080298" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080299" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080300" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080301" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080302" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080303" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080304" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080305" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080306" "" "" "" "1" "" "00002" "{PMID:Loh, M. L (2004):14644997}" "" "" "?" "" "" "0" "" "" "" ""
"00080307" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080308" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080309" "" "" "" "1" "" "00002" "{PMID:Flotho, C (2007):17353900}" "" "M" "?" "" "" "0" "" "" "" ""
"00080310" "" "" "" "1" "" "00002" "{PMID:Flotho, C (2007):17353900}" "" "F" "?" "" "" "0" "" "" "" ""
"00080311" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080312" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080313" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080314" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080315" "" "" "" "1" "" "00002" "{PMID:Loh, M. L (2004):14644997}" "" "" "?" "" "" "0" "" "" "" ""
"00080316" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080317" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080318" "" "" "" "1" "" "00002" "{PMID:Loh, M. L (2004):14644997}" "" "" "?" "" "" "0" "" "" "" ""
"00080319" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080320" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080321" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080322" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080323" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080324" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080325" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080326" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080327" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080328" "" "" "" "1" "" "00002" "{PMID:Hou, H. A (2007):17972951}" "" "M" "?" "" "" "0" "" "" "" ""
"00080329" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080330" "" "" "" "1" "" "00002" "{PMID:Hou, H. A (2007):17972951}" "In the original publication, it is stated that the c.G226C mutation would lead into E76G at the protein level. We assume this was a typo, since c. G226C actually causes E76Q. This patient has also a L74M mutation (c. T220A)." "F" "?" "" "" "0" "" "" "" ""
"00080331" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080332" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080333" "" "" "" "1" "" "00002" "{PMID:Chen, C. Y (2006):16598312}" "" "" "?" "" "" "0" "" "" "" ""
"00080334" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080335" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080336" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080337" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080338" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080339" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080340" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080341" "" "" "" "1" "" "00002" "{PMID:Chen, Y (2006):16518851}" "" "" "?" "" "" "0" "" "" "" ""
"00080342" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080343" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080344" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080345" "" "" "" "1" "" "00002" "{PMID:Loh, M. L (2004):14644997}" "" "" "?" "" "" "0" "" "" "" ""
"00080346" "" "" "" "1" "" "00002" "{PMID:Hou, H. A (2007):17972951}" "" "F" "?" "" "" "0" "" "" "" ""
"00080347" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080348" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080349" "" "" "" "1" "" "00002" "{PMID:Chen, Y (2006):16518851}" "" "" "?" "" "" "0" "" "" "" ""
"00080350" "" "" "" "1" "" "00002" "{PMID:Loh, M. L (2004):14644997}" "" "" "?" "" "" "0" "" "" "" ""
"00080351" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080352" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080353" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080354" "" "" "" "1" "" "00002" "{PMID:Chen, Y (2006):16518851}" "" "" "?" "" "" "0" "" "" "" ""
"00080355" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080356" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080357" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080358" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080359" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080360" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080361" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080362" "" "" "" "1" "" "00002" "{PMID:Chen, Y (2006):16518851}" "" "" "?" "" "" "0" "" "" "" ""
"00080363" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080364" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080365" "" "" "" "1" "" "00002" "{PMID:Hou, H. A (2007):17972951}" "" "M" "?" "" "" "0" "" "" "" ""
"00080366" "" "" "" "1" "" "00002" "{PMID:Hou, H. A (2007):17972951}" "" "M" "?" "" "" "0" "" "" "" ""
"00080367" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080368" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080369" "" "" "" "1" "" "00002" "{PMID:Yamamoto, T (2006):16533526}" "" "" "?" "" "" "0" "" "" "" ""
"00080370" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080371" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080372" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080373" "" "" "" "1" "" "00002" "{PMID:Zenker, M (2004):15001945}" "" "" "?" "" "" "0" "" "" "" ""
"00080374" "" "" "" "1" "" "00002" "{PMID:Musante, L (2003):12634870}" "" "" "?" "" "" "0" "" "" "" ""
"00080375" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080376" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080377" "" "" "" "1" "" "00002" "{PMID:Christiansen, D. H (2007):17330262}" "Primary tumor: Breast cancer, stage II" "F" "?" "" "" "0" "" "" "" ""
"00080378" "" "" "" "1" "" "00002" "{PMID:Christiansen, D. H (2007):17330262}" "Primary tumor: Multiple myeloma" "M" "?" "" "" "0" "" "" "" ""
"00080379" "" "" "" "1" "" "00002" "{PMID:Flotho, C (2007):17353900}" "" "F" "?" "" "" "0" "" "" "" ""
"00080380" "" "" "" "1" "" "00002" "{PMID:Flotho, C (2007):17353900}" "" "M" "?" "" "" "0" "" "" "" ""
"00080381" "" "" "" "1" "" "00002" "{PMID:Hou, H. A (2007):17972951}" "" "M" "?" "" "" "0" "" "" "" ""
"00080382" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080383" "" "" "" "1" "" "00002" "{PMID:Loh, M. L (2004):14644997}" "" "" "?" "" "" "0" "" "" "" ""
"00080384" "" "" "" "1" "" "00002" "{PMID:Kosaki, K (2002):12161469}" "" "" "?" "" "" "0" "" "" "" ""
"00080385" "" "" "" "1" "" "00002" "{PMID:Loh, M. L (2004):14644997}" "" "" "?" "" "" "0" "" "" "" ""
"00080386" "" "" "" "1" "" "00002" "{PMID:Zenker, M (2004):15001945}" "" "" "?" "" "" "0" "" "" "" ""
"00080387" "" "" "" "1" "" "00002" "{PMID:Musante, L (2003):12634870}" "" "" "?" "" "" "0" "" "" "" ""
"00080388" "" "" "" "1" "" "00002" "{PMID:Zenker, M (2004):15001945}" "" "" "?" "" "" "0" "" "" "" ""
"00080389" "" "" "" "1" "" "00002" "{PMID:Zenker, M (2004):15001945}" "" "" "?" "" "" "0" "" "" "" ""
"00080390" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080391" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080392" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080393" "" "" "" "1" "" "00002" "{PMID:Christiansen, D. H (2007):17330262}" "Primary tumor: Lung cancer, undifferentiated" "M" "?" "" "" "0" "" "" "" ""
"00080394" "" "" "" "1" "" "00002" "{PMID:Hou, H. A (2007):17972951}" "" "M" "?" "" "" "0" "" "" "" ""
"00080395" "" "" "" "1" "" "00002" "{PMID:Kosaki, K (2002):12161469}" "" "" "?" "" "" "0" "" "" "" ""
"00080396" "" "" "" "1" "" "00002" "{PMID:Musante, L (2003):12634870}" "" "" "?" "" "" "0" "" "" "" ""
"00080397" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080398" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2001):11704759}" "" "" "?" "" "" "0" "" "" "" ""
"00080399" "" "" "" "1" "" "00002" "{PMID:Loh, M. L (2004):14644997}" "" "" "?" "" "" "0" "" "" "" ""
"00080400" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080401" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080402" "" "" "" "1" "" "00002" "{PMID:Yamamoto, T (2006):16533526}" "" "" "?" "" "" "0" "" "" "" ""
"00080403" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080404" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080405" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080406" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080407" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080408" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2001):11704759}" "" "" "?" "" "" "0" "" "" "" ""
"00080409" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080410" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080411" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080412" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080413" "" "" "" "1" "" "00002" "{PMID:Musante, L (2003):12634870}" "" "" "?" "" "" "0" "" "" "" ""
"00080414" "" "" "" "1" "" "00002" "{PMID:Zenker, M (2004):15001945}" "" "" "?" "" "" "0" "" "" "" ""
"00080415" "" "" "" "1" "" "00002" "{PMID:Paulsson, K (2008):17910045}" "" "M" "?" "" "" "0" "" "" "" ""
"00080416" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080417" "" "" "" "1" "" "00002" "{PMID:Loh, M. L (2004):14644997}" "" "" "?" "" "" "0" "" "" "" ""
"00080418" "" "" "" "1" "" "00002" "{PMID:Paulsson, K (2008):17910045}" "" "M" "?" "" "" "0" "" "" "" ""
"00080419" "" "" "" "1" "" "00002" "{PMID:Loh, M. L (2004):14644997}" "" "" "?" "" "" "0" "" "" "" ""
"00080420" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080421" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080422" "" "" "" "1" "" "00002" "{PMID:Loh, M. L (2004):14644997}" "" "" "?" "" "" "0" "" "" "" ""
"00080423" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080424" "" "" "" "1" "" "00002" "{PMID:Roti, G (2006):16643459}" "" "" "?" "" "" "0" "" "" "" ""
"00080425" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080426" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2002):11992261}" "" "" "?" "" "" "0" "" "" "" ""
"00080427" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080428" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080429" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080430" "" "" "" "1" "" "00002" "{PMID:Kratz, C. P (2005):15928039}" "" "" "?" "" "" "0" "" "" "" ""
"00080431" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080432" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080433" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080434" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2004):14982869}" "" "" "?" "" "" "0" "" "" "" ""
"00080435" "" "" "" "1" "" "00002" "{PMID:Musante, L (2003):12634870}" "" "" "?" "" "" "0" "" "" "" ""
"00080436" "" "" "" "1" "" "00002" "{PMID:Yamamoto, T (2006):16533526}" "" "" "?" "" "" "0" "" "" "" ""
"00080437" "" "" "" "1" "" "00002" "{PMID:Loh, M. L (2004):14644997}" "" "" "?" "" "" "0" "" "" "" ""
"00080438" "" "" "" "1" "" "00002" "{PMID:Tartaglia, M (2003):12717436}" "" "" "?" "" "" "0" "" "" "" ""
"00080439" "" "" "" "1" "" "00002" "{PMID:Zenker, M (2004):15001945}" "" "" "?" "" "" "0" "" "" "" ""
"00080440" "" "" "" "1" "" "00002" "{PMID:Paulsson, K (2008):17910045}" "" "F" "?" "" "" "0" "" "" "" ""
"00080441" "" "" "" "1" "" "00002" "{PMID:Tartaglia (2003):12717436}" "" "?" "?" "" "" "0" "" "" "" ""
"00080442" "" "" "" "1" "" "00002" "{PMID:Kaarow (2007):17361219}" "" "?" "?" "" "" "0" "" "" "" ""
"00081011" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" ""
"00081757" "" "" "" "1" "" "00006" "{PMID:Carapito 2014:24225993}" "" "" "" "" "" "0" "" "" "" ""
"00081758" "" "" "" "1" "" "00006" "{PMID:Chen 2009:19927903}" "" "" "" "" "" "0" "" "" "" ""
"00081759" "" "" "" "1" "" "00006" "{PMID:Atik 2016:26817465}" "" "" "" "" "" "0" "" "" "" ""
"00081760" "" "" "" "1" "" "00006" "{PMID:Ko 2008:19020799}" "" "" "" "" "" "0" "" "" "" ""
"00103258" "" "" "" "1" "" "00002" "{PMID:Siegfried 2017:28328117}" "" "M" "?" "(France)" "" "0" "" "" "" ""
"00183669" "" "" "" "1" "" "00006" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "Spain" "" "0" "" "" "" "27620904-Pat14"
"00265423" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" ""
"00269426" "" "" "" "1" "" "01164" "" "" "?" "" "" "" "0" "" "" "" ""
"00271184" "" "" "" "1" "" "02515" "" "" "F" "?" "Italy" "" "0" "" "" "" "18-5212"
"00290601" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290602" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290603" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290604" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290605" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290606" "" "" "" "39" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00306229" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "136"
"00307145" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "no" "Brazil" "" "0" "" "" "" "Patient 21"
"00311875" "" "" "" "1" "" "00006" "{PMID:White 2018:29276006}" "patient" "" "" "" "" "0" "" "" "" "BAB8743/BH8812_1"
"00327035" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB422-823"
"00327036" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SH324-721"
"00327080" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SH321-718"
"00327100" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SH323-720"
"00327113" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SH322-719"
"00327142" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SH250-59"
"00331550" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "14DG0036"
"00378068" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "181296"
"00380809" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?"
"00396203" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "189640"
"00401566" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "154P"
"00410414" "" "" "" "1" "" "04322" "" "" "M" "no" "China" "" "" "" "" "" "Patient 1"
"00410415" "" "" "" "1" "" "04322" "" "" "M" "no" "China" "" "" "" "" "" "Patient 2"
"00415284" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "F" "" "" "" "0" "" "" "" "2_AD"
"00419530" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "8112"
"00419531" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "8133"
"00419532" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9080"
"00419533" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9138"
"00419534" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9148"
"00419535" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9165"
"00419536" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "2-generation family, patient and unaffected carrier mother" "F" "" "Greece" "" "0" "" "" "" "20044"
"00419537" "" "" "" "2" "" "02300" "{PMID:Marinakis 2021:34008892}" "2-generation family, patient and mildly affected father" "F" "" "Greece" "" "0" "" "" "" "20052"
"00431197" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "212980"
"00433156" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "250856"
"00434237" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "" "" "" "" "0" "" "" "" "Fam13302"
"00443814" "" "" "" "1" "" "00006" "{PMID:Imafidon 2021:34136434}" "prenatal indication abnormal ultrasound" "M" "" "Netherlands" "" "0" "" "" "" "Pat617"
"00449541" "" "" "" "1" "" "00006" "{PMID:Pan 2024:38479391}, {DOI:Pan 2024:10.1016/j.ajhg.2024.02.007}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 314
"{{individualid}}" "{{diseaseid}}"
"00016593" "00382"
"00016593" "00383"
"00043985" "00678"
"00043986" "00678"
"00043987" "00678"
"00043988" "00678"
"00043989" "00678"
"00043990" "00678"
"00050594" "00198"
"00050645" "00198"
"00079904" "00383"
"00079905" "00383"
"00079906" "00383"
"00079907" "00383"
"00080194" "00933"
"00080195" "00383"
"00080196" "00383"
"00080197" "00383"
"00080198" "00383"
"00080199" "00383"
"00080200" "00383"
"00080201" "00383"
"00080202" "00704"
"00080203" "00704"
"00080204" "00704"
"00080205" "00704"
"00080206" "00933"
"00080207" "00704"
"00080208" "00704"
"00080209" "00704"
"00080210" "00383"
"00080211" "00383"
"00080212" "00383"
"00080213" "00383"
"00080214" "00383"
"00080215" "00383"
"00080216" "00383"
"00080217" "00383"
"00080218" "00383"
"00080219" "00383"
"00080220" "00383"
"00080221" "00933"
"00080222" "00383"
"00080223" "00383"
"00080224" "00383"
"00080225" "00383"
"00080226" "00383"
"00080227" "00383"
"00080228" "00383"
"00080229" "00383"
"00080230" "00383"
"00080231" "00383"
"00080232" "00383"
"00080233" "00383"
"00080234" "00383"
"00080235" "00383"
"00080236" "00383"
"00080237" "00383"
"00080238" "00383"
"00080239" "00383"
"00080240" "00908"
"00080241" "00704"
"00080242" "00704"
"00080243" "00704"
"00080244" "00704"
"00080245" "00704"
"00080246" "00383"
"00080247" "00383"
"00080248" "00704"
"00080249" "00704"
"00080250" "00933"
"00080251" "00933"
"00080252" "00704"
"00080253" "00933"
"00080254" "00383"
"00080255" "00383"
"00080256" "00908"
"00080257" "00908"
"00080258" "00908"
"00080259" "00704"
"00080260" "00933"
"00080261" "00908"
"00080262" "00933"
"00080263" "00908"
"00080264" "00383"
"00080265" "00383"
"00080266" "00704"
"00080267" "00383"
"00080268" "00383"
"00080269" "00383"
"00080270" "00383"
"00080271" "00383"
"00080271" "00704"
"00080272" "00383"
"00080273" "00383"
"00080274" "00383"
"00080275" "00704"
"00080276" "00704"
"00080277" "00383"
"00080278" "00383"
"00080279" "00933"
"00080280" "00383"
"00080281" "00132"
"00080281" "00383"
"00080282" "00383"
"00080283" "00908"
"00080284" "00933"
"00080285" "00383"
"00080286" "00132"
"00080287" "00383"
"00080288" "00383"
"00080289" "00704"
"00080290" "00704"
"00080291" "00704"
"00080292" "00704"
"00080293" "00704"
"00080294" "00704"
"00080295" "00704"
"00080296" "00704"
"00080297" "00704"
"00080298" "00704"
"00080299" "00383"
"00080300" "00704"
"00080301" "00704"
"00080302" "00704"
"00080303" "00704"
"00080304" "00704"
"00080305" "00704"
"00080306" "00704"
"00080307" "00704"
"00080308" "00704"
"00080309" "00704"
"00080310" "00704"
"00080311" "00704"
"00080312" "00704"
"00080313" "00704"
"00080314" "00704"
"00080315" "00704"
"00080316" "00704"
"00080317" "00704"
"00080318" "00704"
"00080319" "00933"
"00080320" "00704"
"00080321" "00704"
"00080322" "00933"
"00080323" "00704"
"00080324" "00704"
"00080325" "00704"
"00080326" "00704"
"00080327" "00704"
"00080328" "00908"
"00080329" "00704"
"00080330" "00908"
"00080331" "00704"
"00080332" "00704"
"00080333" "00132"
"00080334" "00704"
"00080335" "00704"
"00080336" "00704"
"00080337" "00704"
"00080338" "00704"
"00080339" "00704"
"00080340" "00704"
"00080341" "00132"
"00080342" "00933"
"00080343" "00704"
"00080344" "00704"
"00080345" "00704"
"00080346" "00908"
"00080347" "00933"
"00080348" "00933"
"00080349" "01545"
"00080350" "00704"
"00080351" "00704"
"00080352" "00933"
"00080353" "00933"
"00080354" "00933"
"00080355" "00383"
"00080356" "00383"
"00080356" "00704"
"00080357" "00704"
"00080358" "00704"
"00080359" "00704"
"00080360" "00704"
"00080361" "00704"
"00080362" "00908"
"00080363" "00704"
"00080364" "00704"
"00080365" "00908"
"00080366" "00908"
"00080367" "00704"
"00080368" "00132"
"00080369" "00933"
"00080370" "00383"
"00080370" "05106"
"00080371" "00704"
"00080372" "00933"
"00080373" "00383"
"00080374" "00383"
"00080375" "00383"
"00080375" "05106"
"00080376" "00704"
"00080377" "00132"
"00080377" "00908"
"00080378" "00908"
"00080379" "00704"
"00080380" "00704"
"00080381" "00908"
"00080382" "00383"
"00080383" "00704"
"00080384" "00383"
"00080385" "00704"
"00080386" "00383"
"00080387" "00383"
"00080388" "00383"
"00080389" "00383"
"00080390" "00383"
"00080390" "05106"
"00080391" "00383"
"00080391" "05106"
"00080392" "00933"
"00080393" "00132"
"00080393" "00908"
"00080394" "00908"
"00080395" "00383"
"00080396" "00383"
"00080397" "00383"
"00080398" "00383"
"00080399" "00704"
"00080400" "00383"
"00080401" "00704"
"00080402" "00933"
"00080403" "00704"
"00080404" "00704"
"00080405" "00933"
"00080406" "00704"
"00080407" "00383"
"00080408" "00383"
"00080409" "00704"
"00080410" "00132"
"00080411" "00933"
"00080412" "00933"
"00080413" "00383"
"00080414" "00383"
"00080415" "00933"
"00080416" "00704"
"00080417" "00704"
"00080418" "00933"
"00080419" "00704"
"00080420" "00704"
"00080421" "00704"
"00080422" "00704"
"00080423" "00132"
"00080424" "00383"
"00080425" "00383"
"00080426" "00383"
"00080427" "00704"
"00080428" "00704"
"00080429" "00704"
"00080430" "00704"
"00080431" "00704"
"00080432" "00704"
"00080433" "00704"
"00080434" "00933"
"00080435" "00383"
"00080436" "00933"
"00080437" "00704"
"00080438" "00132"
"00080439" "00383"
"00080440" "00933"
"00080441" "00908"
"00080442" "00383"
"00081011" "00383"
"00103258" "00383"
"00183669" "00139"
"00265423" "00198"
"00271184" "00705"
"00290601" "00198"
"00290602" "00198"
"00290603" "00198"
"00290604" "00198"
"00290605" "00198"
"00290606" "00198"
"00306229" "05441"
"00307145" "01544"
"00311875" "00180"
"00327035" "05086"
"00327036" "06877"
"00327080" "06877"
"00327100" "06877"
"00327113" "05086"
"00327142" "05086"
"00331550" "05517"
"00378068" "05441"
"00380809" "05441"
"00396203" "00703"
"00401566" "00139"
"00410414" "05441"
"00410415" "05441"
"00415284" "04214"
"00419530" "00198"
"00419531" "00198"
"00419532" "00198"
"00419533" "00198"
"00419534" "00198"
"00419535" "00198"
"00419536" "00198"
"00419537" "00198"
"00431197" "05441"
"00431197" "06297"
"00433156" "05441"
"00434237" "00198"
"00443814" "00198"
"00449541" "05611"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00132, 00139, 00180, 00198, 00382, 00383, 00678, 00703, 00704, 00705, 00908, 00933, 01544, 01545, 04214, 05086, 05106, 05441, 05517, 05611, 06297, 06877
## Count = 285
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000015217" "00382" "00016593" "00708" "Isolated (sporadic)" "06y" "features: \r\n- megalencephaly\r\n- cerebellar tonsillar ectopia\r\n- abnormal thick corpus callosum\r\n- congenital somatic overgrowth\r\n- somatic asymmetry/hemihypertrophy\r\n- cutaneous capillary malformations: midline facial naevus flammeus, cutis marmorata\r\n- syndactyly\r\n- postaxial polydactyly\r\n- hypotonia\r\n- developmental delay\r\n- frontal bossing" "" "" "" "" "" "" "" "" "" "" ""
"0000037206" "00198" "00050594" "00006" "Unknown" "" "defect in the atrial septum, deeply set eye, postnatal microcephaly, low posterior hairline, hypermetropia, gastroesophageal reflux, sleep disturbance, intellectual disability, autism, anxiety, constipation, impaired pain sensation" "" "" "" "" "" "" "" "" "" "" ""
"0000037257" "00198" "00050645" "00006" "Isolated (sporadic)" "" "narrow forehead, global developmental delay, defect in the atrial septum, dysplastic pulmonary valve, low-set ears" "" "" "" "" "" "" "" "" "" "" ""
"0000059758" "00933" "00080194" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia - Pre-B" "" "" "" "" "" "" "" "" "" "" ""
"0000059759" "00383" "00080195" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059760" "00383" "00080196" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059761" "00383" "00080197" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059762" "00383" "00080198" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059763" "00383" "00080199" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059764" "00383" "00080200" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059765" "00383" "00080201" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059766" "00704" "00080202" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059767" "00704" "00080203" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059768" "00704" "00080204" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059769" "00704" "00080205" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059770" "00933" "00080206" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia - common" "" "" "" "" "" "" "" "" "" "" ""
"0000059771" "00704" "00080207" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059772" "00704" "00080208" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059773" "00704" "00080209" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059774" "00383" "00080210" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059775" "00383" "00080211" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059776" "00383" "00080212" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059777" "00383" "00080213" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059778" "00383" "00080214" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059779" "00383" "00080215" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059780" "00383" "00080216" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059781" "00383" "00080217" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059782" "00383" "00080218" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059783" "00383" "00080219" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059784" "00383" "00080220" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059785" "00933" "00080221" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia - common" "" "" "" "" "" "" "" "" "" "" ""
"0000059786" "00383" "00080222" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059787" "00383" "00080223" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059788" "00383" "00080224" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059789" "00383" "00080225" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059790" "00383" "00080226" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059791" "00383" "00080227" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059792" "00383" "00080228" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059793" "00383" "00080229" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059794" "00383" "00080230" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059795" "00383" "00080231" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059796" "00383" "00080232" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059797" "00383" "00080233" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059798" "00383" "00080234" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059799" "00383" "00080235" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059800" "00383" "00080236" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059801" "00383" "00080237" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059802" "00383" "00080238" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059803" "00383" "00080239" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059804" "00908" "00080240" "00002" "Unknown" "" "Diagnosis: Acute monocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059805" "00704" "00080241" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059806" "00704" "00080242" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059807" "00704" "00080243" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059808" "00704" "00080244" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059809" "00704" "00080245" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059810" "00383" "00080246" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059811" "00383" "00080247" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059812" "00704" "00080248" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059813" "00704" "00080249" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059814" "00933" "00080250" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia - common" "" "" "" "" "" "" "" "" "" "" ""
"0000059815" "00933" "00080251" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia - common" "" "" "" "" "" "" "" "" "" "" ""
"0000059816" "00704" "00080252" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059817" "00933" "00080253" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia (ALL)" "" "" "" "" "" "" "" "" "" "" ""
"0000059818" "00383" "00080254" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059819" "00383" "00080255" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059820" "00908" "00080256" "00002" "Unknown" "39y" "Diagnosis: Acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059821" "00908" "00080257" "00002" "Unknown" "60y" "Diagnosis: Acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059822" "00908" "00080258" "00002" "Unknown" "71y" "Diagnosis: Acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059823" "00704" "00080259" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059824" "00933" "00080260" "00002" "Unknown" "" "Diagnosis: Acute lymphoclastic leukemia - common" "" "" "" "" "" "" "" "" "" "" ""
"0000059825" "00908" "00080261" "00002" "Unknown" "47y" "Diagnosis: Acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059826" "00933" "00080262" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia - common" "" "" "" "" "" "" "" "" "" "" ""
"0000059827" "00908" "00080263" "00002" "Unknown" "72y" "Diagnosis: Acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059828" "00383" "00080264" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059829" "00383" "00080265" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059830" "00704" "00080266" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059831" "00383" "00080267" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059832" "00383" "00080268" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059833" "00383" "00080269" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059834" "00383" "00080270" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059835" "00704" "00080271" "00002" "Unknown" "" "Diagnosis: Noonan syndrome / juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059836" "00383" "00080272" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059837" "00383" "00080273" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059838" "00383" "00080274" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059839" "00704" "00080275" "00002" "Unknown" "0y07m" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059840" "00704" "00080276" "00002" "Unknown" "03y10m" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059841" "00383" "00080277" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059842" "00383" "00080278" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059843" "00933" "00080279" "00002" "Unknown" "03y" "Diagnosis: Acute lymphoblastic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059844" "00383" "00080280" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059845" "00383" "00080281" "00002" "Unknown" "" "Diagnosis: Noonan syndrome - MPD" "" "" "" "" "" "" "" "" "" "" ""
"0000059846" "00383" "00080282" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059847" "00908" "00080283" "00002" "Unknown" "" "Diagnosis: Acute myelogenous leukemia (AML)" "" "" "" "" "" "" "" "" "" "" ""
"0000059848" "00933" "00080284" "00002" "Unknown" "11y" "Diagnosis: Acute lymphoblastic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059849" "00383" "00080285" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059850" "00132" "00080286" "00002" "Unknown" "" "Diagnosis: MDS" "" "" "" "" "" "" "" "" "" "" ""
"0000059851" "00383" "00080287" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059852" "00383" "00080288" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059853" "00704" "00080289" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059854" "00704" "00080290" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059855" "00704" "00080291" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059856" "00704" "00080292" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059857" "00704" "00080293" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059858" "00704" "00080294" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059859" "00704" "00080295" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059860" "00704" "00080296" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059861" "00704" "00080297" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059862" "00704" "00080298" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059863" "00383" "00080299" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059864" "00704" "00080300" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059865" "00704" "00080301" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059866" "00704" "00080302" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059867" "00704" "00080303" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059868" "00704" "00080304" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059869" "00704" "00080305" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059870" "00704" "00080306" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059871" "00704" "00080307" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059872" "00704" "00080308" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059873" "00704" "00080309" "00002" "Unknown" "06y07m" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059874" "00704" "00080310" "00002" "Unknown" "0y02m" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059875" "00704" "00080311" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059876" "00704" "00080312" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059877" "00704" "00080313" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059878" "00704" "00080314" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059879" "00704" "00080315" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059880" "00704" "00080316" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059881" "00704" "00080317" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059882" "00704" "00080318" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059883" "00933" "00080319" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia - common" "" "" "" "" "" "" "" "" "" "" ""
"0000059884" "00704" "00080320" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059885" "00704" "00080321" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059886" "00933" "00080322" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia - common" "" "" "" "" "" "" "" "" "" "" ""
"0000059887" "00704" "00080323" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059888" "00704" "00080324" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059889" "00704" "00080325" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059890" "00704" "00080326" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059891" "00704" "00080327" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059892" "00908" "00080328" "00002" "Unknown" "64y" "Diagnosis: Acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059893" "00704" "00080329" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059894" "00908" "00080330" "00002" "Unknown" "75y" "Diagnosis: Acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059895" "00704" "00080331" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059896" "00704" "00080332" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059897" "00132" "00080333" "00002" "Unknown" "" "Diagnosis: Myelodysplastic syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059898" "00704" "00080334" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059899" "00704" "00080335" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059900" "00704" "00080336" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059901" "00704" "00080337" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059902" "00704" "00080338" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059903" "00704" "00080339" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059904" "00704" "00080340" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059905" "00132" "00080341" "00002" "Unknown" "" "Diagnosis: MDS" "" "" "" "" "" "" "" "" "" "" ""
"0000059906" "00933" "00080342" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059907" "00704" "00080343" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059908" "00704" "00080344" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059909" "00704" "00080345" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059910" "00908" "00080346" "00002" "Unknown" "50y" "Diagnosis: Acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059911" "00933" "00080347" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia - common" "" "" "" "" "" "" "" "" "" "" ""
"0000059912" "00933" "00080348" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia - common" "" "" "" "" "" "" "" "" "" "" ""
"0000059913" "00383" "00080349" "00002" "Unknown" "" "Diagnosis: Rhabdomyosarcoma" "" "" "" "" "" "" "" "" "" "" ""
"0000059914" "00704" "00080350" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059915" "00704" "00080351" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059916" "00933" "00080352" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia - common" "" "" "" "" "" "" "" "" "" "" ""
"0000059917" "00933" "00080353" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia - common" "" "" "" "" "" "" "" "" "" "" ""
"0000059918" "00933" "00080354" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia (ALL)" "" "" "" "" "" "" "" "" "" "" ""
"0000059919" "00383" "00080355" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059920" "00704" "00080356" "00002" "Unknown" "" "Diagnosis: Noonan syndrome / juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059921" "00704" "00080357" "00002" "Unknown" "" "Diagnosis: Noonan syndrome / juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059922" "00704" "00080358" "00002" "Unknown" "" "Diagnosis: Noonan syndrome / juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059923" "00704" "00080359" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059924" "00704" "00080360" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059925" "00704" "00080361" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059926" "00908" "00080362" "00002" "Unknown" "" "Diagnosis: AML" "" "" "" "" "" "" "" "" "" "" ""
"0000059927" "00704" "00080363" "00002" "Unknown" "" "Diagnosis: Noonan syndrome / juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059928" "00704" "00080364" "00002" "Unknown" "" "Diagnosis: Growth retardation/pulmonic stenosis/juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059929" "00908" "00080365" "00002" "Unknown" "64y" "Diagnosis: Acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059930" "00908" "00080366" "00002" "Unknown" "52y" "Diagnosis: Acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059931" "00704" "00080367" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059932" "00132" "00080368" "00002" "Unknown" "" "Diagnosis: MDS" "" "" "" "" "" "" "" "" "" "" ""
"0000059933" "00933" "00080369" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia (ALL)" "" "" "" "" "" "" "" "" "" "" ""
"0000059934" "00383" "00080370" "00002" "Unknown" "" "Diagnosis: Noonan syndrome / MPD" "" "" "" "" "" "" "" "" "" "" ""
"0000059935" "00704" "00080371" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059936" "00933" "00080372" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia - common" "" "" "" "" "" "" "" "" "" "" ""
"0000059937" "00383" "00080373" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059938" "00383" "00080374" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059939" "00383" "00080375" "00002" "Unknown" "" "Diagnosis: Noonan syndrome / MPD" "" "" "" "" "" "" "" "" "" "" ""
"0000059940" "00704" "00080376" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059941" "00908" "00080377" "00002" "Unknown" "57y" "Diagnosis: MDS/AML" "" "" "" "" "" "" "" "" "" "" ""
"0000059942" "00908" "00080378" "00002" "Unknown" "68y" "Diagnosis: AML" "" "" "" "" "" "" "" "" "" "" ""
"0000059943" "00704" "00080379" "00002" "Unknown" "01y10m" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059944" "00704" "00080380" "00002" "Unknown" "05y" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059945" "00908" "00080381" "00002" "Unknown" "47y" "Diagnosis: Acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059946" "00383" "00080382" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059947" "00704" "00080383" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059948" "00383" "00080384" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059949" "00704" "00080385" "00002" "Unknown" "" "Diagnosis: Noonan syndrome / juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059950" "00383" "00080386" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059951" "00383" "00080387" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059952" "00383" "00080388" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059953" "00383" "00080389" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059954" "00383" "00080390" "00002" "Unknown" "" "Diagnosis: Noonan syndrome / MPD" "" "" "" "" "" "" "" "" "" "" ""
"0000059955" "00383" "00080391" "00002" "Unknown" "" "Diagnosis: Noonan syndrome / MPD" "" "" "" "" "" "" "" "" "" "" ""
"0000059956" "00933" "00080392" "00002" "Unknown" "" "Diagnosis: Acute lymphoclastic leukemia - common" "" "" "" "" "" "" "" "" "" "" ""
"0000059957" "00908" "00080393" "00002" "Unknown" "60y" "Diagnosis: MDS/AML" "" "" "" "" "" "" "" "" "" "" ""
"0000059958" "00908" "00080394" "00002" "Unknown" "78y" "Diagnosis: Acute myeloid leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059959" "00383" "00080395" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059960" "00383" "00080396" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059961" "00383" "00080397" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059962" "00383" "00080398" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059963" "00704" "00080399" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059964" "00383" "00080400" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059965" "00704" "00080401" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059966" "00933" "00080402" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059967" "00704" "00080403" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059968" "00704" "00080404" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059969" "00933" "00080405" "00002" "Unknown" "" "Diagnosis: Acute lymphoclastic leukemia - Pre-B" "" "" "" "" "" "" "" "" "" "" ""
"0000059970" "00704" "00080406" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059971" "00383" "00080407" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059972" "00383" "00080408" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059973" "00704" "00080409" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059974" "00132" "00080410" "00002" "Unknown" "" "Diagnosis: MDS" "" "" "" "" "" "" "" "" "" "" ""
"0000059975" "00933" "00080411" "00002" "Unknown" "" "Diagnosis: Acute lymphoclastic leukemia - common" "" "" "" "" "" "" "" "" "" "" ""
"0000059976" "00933" "00080412" "00002" "Unknown" "" "Diagnosis: Acute lymphoclastic leukemia - Bi-lineage" "" "" "" "" "" "" "" "" "" "" ""
"0000059977" "00383" "00080413" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059978" "00383" "00080414" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059979" "00933" "00080415" "00002" "Unknown" "05y" "Diagnosis: Acute lymphoblastic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059980" "00704" "00080416" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059981" "00704" "00080417" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059982" "00933" "00080418" "00002" "Unknown" "03y" "Diagnosis: Acute lymphoblastic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059983" "00704" "00080419" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059984" "00704" "00080420" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059985" "00704" "00080421" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059986" "00704" "00080422" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059987" "00132" "00080423" "00002" "Unknown" "" "Diagnosis: MDS" "" "" "" "" "" "" "" "" "" "" ""
"0000059988" "00383" "00080424" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000059989" "00383" "00080425" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000059990" "00383" "00080426" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000059991" "00704" "00080427" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059992" "00704" "00080428" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059993" "00704" "00080429" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059994" "00704" "00080430" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059995" "00704" "00080431" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059996" "00704" "00080432" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059997" "00704" "00080433" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000059998" "00933" "00080434" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia - common" "" "" "" "" "" "" "" "" "" "" ""
"0000059999" "00383" "00080435" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000060000" "00933" "00080436" "00002" "Unknown" "" "Diagnosis: Acute lymphoblastic leukemia (ALL)" "" "" "" "" "" "" "" "" "" "" ""
"0000060001" "00704" "00080437" "00002" "Unknown" "" "Diagnosis: Juvenile myelomonocytic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000060002" "00132" "00080438" "00002" "Unknown" "" "Diagnosis: MDS" "" "" "" "" "" "" "" "" "" "" ""
"0000060003" "00383" "00080439" "00002" "Unknown" "" "Diagnosis: Noonan syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000060004" "00933" "00080440" "00002" "Unknown" "07y" "Diagnosis: Acute lymphoblastic leukemia" "" "" "" "" "" "" "" "" "" "" ""
"0000060005" "00908" "00080441" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000060006" "00383" "00080442" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000060580" "00383" "00081011" "01758" "Isolated (sporadic)" "" "Noonan syndrome 1 (OMIM:163950)" "" "" "" "" "" "" "" "" "" "" ""
"0000061396" "00383" "00079904" "01742" "Unknown" "12y06m" "high anterior, depressed nasal bridge, hypertelorism, down-slanting palpebral fissures, low-set and posteriorly angulated ears with thick helices; multiple giant cell lesions; pigmented villonodular synovitis lesions" "" "" "" "" "" "" "" "" "" "" ""
"0000061397" "00383" "00079905" "01742" "Unknown" "<00y" "fetal chylothorax" "" "" "" "" "" "" "" "" "" "" ""
"0000061398" "00383" "00079906" "01742" "Unknown" "" "Symptoms: hypertrophic cardiomyopathy, thorax deformity, mild developmental delay" "" "09y06m" "" "" "" "" "" "" "" "" ""
"0000061399" "00383" "00079907" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000081338" "00383" "00103258" "00002" "Unknown" "16y" "Several dysmorphic facial features, short stature, pubertal development delay, moderate language deficit, cryptorchidism, cardiac defect. Dysembryoplastic neuroepithelial tumor (DNT)" "" "14y" "" "" "" "" "" "" "" "" ""
"0000144355" "00139" "00183669" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "NS-1" "intellectual disability" ""
"0000203226" "00198" "00265423" "01807" "Unknown" "" "Bruising susceptibility (HP:0000978)" "" "" "" "" "" "" "" "" "" "" ""
"0000207251" "00198" "00269426" "01164" "Unknown" "" "Abnormality of prenatal development or birth (HP:0001197); Abnormality of the fetal cardiovascular system (HP:0010948); Increased nuchal translucency (HP:0010880); Branchial cyst (HP:0009796)" "" "" "" "" "" "" "" "" "" "" ""
"0000207798" "00705" "00271184" "02515" "Unknown" "04y" "Lesions at femur and left foot, at the level of the third finger of the right hand and at the left ankle, and at the right knee." "" "14y" "" "" "" "" "" "" "Metachondromatosis" "Exostosis" ""
"0000232077" "05441" "00306229" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000232950" "01544" "00307145" "03753" "Unknown" "" "Unilateral" "" "00y32m" "HP:0000555" "" "" "" "" "" "" "" ""
"0000237123" "00180" "00311875" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "NS1" "Robinow syndrome" ""
"0000249742" "05517" "00331550" "00000" "Familial, autosomal dominant" "" "Short stature, Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissures, Up Yes" "" "" "" "" "" "" "" "" "Disorganized development of skeletal components group" "skeletal dysplasia" ""
"0000273210" "05441" "00378068" "01164" "Unknown" "04y" "Abnormal palate morphology, High palate, Microcephaly, Deeply set eye, Aplasia/Hypoplasia of the cerebrum, Abnormality of higher mental function, Decreased head circumference, Cognitive impairment, Abnormality of globe location" "" "" "" "" "" "" "" "" "" "" ""
"0000274662" "05441" "00380809" "00000" "Familial" "" "Short stature; heart malformation (Multiple systems)" "" "" "" "" "" "" "" "" "Noonan syndrome" "" ""
"0000289369" "00703" "00396203" "01164" "Isolated (sporadic)" "01y" "Microcephaly, Pulmonic stenosis, Ventricular septal defect, Cryptorchidism, Anal stenosis, Delayed speech and language development" "" "" "" "" "" "" "" "" "" "" ""
"0000302516" "05441" "00410414" "04322" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000302517" "05441" "00410415" "04322" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000307082" "04214" "00415284" "00000" "Familial, autosomal dominant" "" "OMIM: 163950; large forehead, depressed nasal bridge, bulbous nose, left pulmonary artery stenosis, and speech delay" "" "" "" "" "" "" "" "" "Noonan Syndrome" "" ""
"0000310811" "00198" "00419530" "02300" "Isolated (sporadic)" "3y" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" ""
"0000310812" "00198" "00419531" "02300" "Isolated (sporadic)" "21y" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" ""
"0000310813" "00198" "00419532" "02300" "Isolated (sporadic)" "1y" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" ""
"0000310814" "00198" "00419533" "02300" "Isolated (sporadic)" "13y" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" ""
"0000310815" "00198" "00419534" "02300" "Isolated (sporadic)" "16y" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" ""
"0000310816" "00198" "00419535" "02300" "Isolated (sporadic)" "2y" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" ""
"0000310817" "00198" "00419536" "02300" "Unknown" "1y" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" ""
"0000310818" "00198" "00419537" "02300" "Familial, autosomal dominant" "3y" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" ""
"0000321806" "05441" "00431197" "01164" "Unknown" "06y" "Seizure, Failure to thrive, Short stature, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" ""
"0000323703" "05441" "00433156" "01164" "Unknown" "06y" "Abnormality of the face, Intellectual disability, Hoarse voice, Brachydactyly, Abnormal social behavior, Slurred speech" "" "" "" "" "" "" "" "" "" "" ""
"0000324595" "00198" "00434237" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "NS1" "microphthalmia, anophthalmia, coloboma" ""
"0000333091" "00198" "00443814" "00006" "Isolated (sporadic)" "" "multiple abnormalities of the vertebrae, dysmorphic features" "" "" "" "" "" "" "" "" "" "" ""
"0000338715" "05611" "00449541" "00006" "Isolated (sporadic)" "3y3m" "see paper; ..., no prenatal complications; developmental delay and/or intellectual disability; delayed speech, delayed language; no autism; no psychiatric problems; no hypotonia; staring spells daily lasting 1-2 min; brain MRI/CT intraventricular hemorrhage, small subdural collections; RV tumor, partial atrioventricular septal defect, atrial septal defect, peripheral pulmonary stenosis; no genitourinary anomalies; no gastrointestinal anomalies; upslanting palpebral fissures, bitemporal narrowing, tall forehead, epicanthal folds, flat nasal bridge, short upturned nose, long well-grooved philtrum, cleft chin; pulmonary hypertension" "" "" "" "" "" "" "" "" "" "developmental delay, intellectual disability, dysmorphic features" ""
## Screenings ## Do not remove or alter this header ##
## Count = 308
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000016545" "00016593" "1" "00708" "00708" "2014-05-14 07:29:03" "" "" "SEQ-NG" "DNA" "blood; saliva" ""
"0000044090" "00043985" "1" "00034" "00034" "2015-06-29 11:18:15" "" "" "SEQ" "DNA" "blood" ""
"0000044091" "00043986" "1" "00034" "00034" "2015-06-29 11:29:15" "" "" "SEQ" "DNA" "blood" ""
"0000044092" "00043987" "1" "00034" "00034" "2015-06-29 11:34:19" "" "" "SEQ" "DNA" "blood" ""
"0000044094" "00043988" "1" "00034" "00034" "2015-06-29 11:38:59" "" "" "SEQ" "DNA" "blood" ""
"0000044095" "00043989" "1" "00034" "00034" "2015-06-29 11:42:39" "" "" "SEQ" "DNA" "blood" ""
"0000044096" "00043990" "1" "00034" "00034" "2015-06-29 11:46:44" "" "" "SEQ" "DNA" "blood" ""
"0000050539" "00050594" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000050590" "00050645" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000079987" "00079904" "1" "01742" "01742" "2016-08-26 15:35:32" "00002" "2017-01-10 15:38:57" "SEQ-NG" "DNA" "" ""
"0000079988" "00079905" "1" "01742" "01742" "2016-08-26 15:40:10" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000079989" "00079906" "1" "01742" "01742" "2016-08-26 15:42:50" "00002" "2017-01-10 14:27:59" "SEQ-NG" "DNA" "blood" ""
"0000079990" "00079907" "1" "01742" "01742" "2016-08-26 15:51:14" "00002" "2017-01-10 14:42:26" "SEQ-NG" "DNA" "blood" ""
"0000080287" "00080194" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080288" "00080195" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080289" "00080196" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080290" "00080197" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080291" "00080198" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080292" "00080199" "1" "00002" "00002" "2008-02-15 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080293" "00080200" "1" "00002" "00002" "2008-02-15 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080294" "00080201" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080295" "00080202" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080296" "00080203" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080297" "00080204" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080298" "00080205" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080299" "00080206" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080300" "00080207" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080301" "00080208" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080302" "00080209" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080303" "00080210" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080304" "00080211" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080305" "00080212" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080306" "00080213" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080307" "00080214" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080308" "00080215" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080309" "00080216" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080310" "00080217" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080311" "00080218" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080312" "00080219" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080313" "00080220" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080314" "00080221" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080315" "00080222" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080316" "00080223" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080317" "00080224" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080318" "00080225" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080319" "00080226" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080320" "00080227" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080321" "00080228" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080322" "00080229" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080323" "00080230" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080324" "00080231" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080325" "00080232" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080326" "00080233" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080327" "00080234" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080328" "00080235" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080329" "00080236" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080330" "00080237" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080331" "00080238" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080332" "00080239" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080333" "00080240" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080334" "00080241" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080335" "00080242" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080336" "00080243" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080337" "00080244" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080338" "00080245" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080339" "00080246" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080340" "00080247" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080341" "00080248" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080342" "00080249" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080343" "00080250" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080344" "00080251" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080345" "00080252" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080346" "00080253" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080347" "00080254" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080348" "00080255" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080349" "00080256" "1" "00002" "00002" "2008-02-19 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080350" "00080257" "1" "00002" "00002" "2008-02-19 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080351" "00080258" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080352" "00080259" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080353" "00080260" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080354" "00080261" "1" "00002" "00002" "2008-02-19 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080355" "00080262" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080356" "00080263" "1" "00002" "00002" "2008-02-19 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080357" "00080264" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080358" "00080265" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080359" "00080266" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080360" "00080267" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080361" "00080268" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080362" "00080269" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080363" "00080270" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080364" "00080271" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080365" "00080272" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080366" "00080273" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080367" "00080274" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080368" "00080275" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080369" "00080276" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080370" "00080277" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080371" "00080278" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080372" "00080279" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080373" "00080280" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080374" "00080281" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080375" "00080282" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080376" "00080283" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080377" "00080284" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080378" "00080285" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080379" "00080286" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080380" "00080287" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080381" "00080288" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080382" "00080289" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080383" "00080290" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080384" "00080291" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080385" "00080292" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080386" "00080293" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080387" "00080294" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080388" "00080295" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080389" "00080296" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080390" "00080297" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080391" "00080298" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080392" "00080299" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080393" "00080300" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080394" "00080301" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080395" "00080302" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080396" "00080303" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080397" "00080304" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080398" "00080305" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080399" "00080306" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080400" "00080307" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080401" "00080308" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080402" "00080309" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080403" "00080310" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080404" "00080311" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080405" "00080312" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080406" "00080313" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080407" "00080314" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080408" "00080315" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080409" "00080316" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080410" "00080317" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080411" "00080318" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080412" "00080319" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080413" "00080320" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080414" "00080321" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080415" "00080322" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080416" "00080323" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080417" "00080324" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080418" "00080325" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080419" "00080326" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080420" "00080327" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080421" "00080328" "1" "00002" "00002" "2008-02-19 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080422" "00080329" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080423" "00080330" "1" "00002" "00002" "2008-02-20 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080424" "00080331" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080425" "00080332" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080426" "00080333" "1" "00002" "00002" "2008-02-19 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080427" "00080334" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080428" "00080335" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080429" "00080336" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080430" "00080337" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080431" "00080338" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080432" "00080339" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080433" "00080340" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080434" "00080341" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080435" "00080342" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080436" "00080343" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080437" "00080344" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080438" "00080345" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080439" "00080346" "1" "00002" "00002" "2008-02-19 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080440" "00080347" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080441" "00080348" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080442" "00080349" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080443" "00080350" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080444" "00080351" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080445" "00080352" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080446" "00080353" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080447" "00080354" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080448" "00080355" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080449" "00080356" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080450" "00080357" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080451" "00080358" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080452" "00080359" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080453" "00080360" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080454" "00080361" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080455" "00080362" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080456" "00080363" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080457" "00080364" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080458" "00080365" "1" "00002" "00002" "2008-02-19 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080459" "00080366" "1" "00002" "00002" "2008-02-19 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080460" "00080367" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080461" "00080368" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080462" "00080369" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080463" "00080370" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080464" "00080371" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080465" "00080372" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080466" "00080373" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080467" "00080374" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080468" "00080375" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080469" "00080376" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080470" "00080377" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080471" "00080378" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080472" "00080379" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080473" "00080380" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080474" "00080381" "1" "00002" "00002" "2008-02-19 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080475" "00080382" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080476" "00080383" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080477" "00080384" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080478" "00080385" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080479" "00080386" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080480" "00080387" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080481" "00080388" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080482" "00080389" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080483" "00080390" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080484" "00080391" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080485" "00080392" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080486" "00080393" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080487" "00080394" "1" "00002" "00002" "2008-02-19 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080488" "00080395" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080489" "00080396" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080490" "00080397" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080491" "00080398" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080492" "00080399" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080493" "00080400" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080494" "00080401" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080495" "00080402" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080496" "00080403" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080497" "00080404" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080498" "00080405" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080499" "00080406" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080500" "00080407" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080501" "00080408" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080502" "00080409" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080503" "00080410" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080504" "00080411" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080505" "00080412" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080506" "00080413" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080507" "00080414" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080508" "00080415" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080509" "00080416" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080510" "00080417" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080511" "00080418" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080512" "00080419" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080513" "00080420" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080514" "00080421" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080515" "00080422" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080516" "00080423" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080517" "00080424" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080518" "00080425" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080519" "00080426" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080520" "00080427" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080521" "00080428" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080522" "00080429" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080523" "00080430" "1" "00002" "00002" "2008-02-16 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080524" "00080431" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080525" "00080432" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080526" "00080433" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080527" "00080434" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080528" "00080435" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080529" "00080436" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080530" "00080437" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080531" "00080438" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080532" "00080439" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080533" "00080440" "1" "00002" "00002" "2008-02-18 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080534" "00080441" "1" "00002" "00002" "2016-08-31 11:11:34" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080535" "00080442" "1" "00002" "00002" "2016-08-31 11:24:39" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000081123" "00081011" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000081887" "00081757" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" ""
"0000081888" "00081758" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" ""
"0000081889" "00081759" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" ""
"0000081890" "00081760" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" ""
"0000103713" "00103258" "1" "00002" "00002" "2017-04-13 10:42:30" "" "" "SEQ" "DNA" "" ""
"0000184637" "00183669" "1" "00006" "00006" "2018-10-27 10:06:27" "" "" "SEQ;SEQ-NG" "DNA" "" "1256 gene panel"
"0000266549" "00265423" "1" "01807" "01807" "2019-09-25 09:37:07" "" "" "SEQ" "DNA" "" ""
"0000270569" "00269426" "1" "01164" "01164" "2019-11-26 10:38:18" "" "" "SEQ-NG-S" "DNA" "" ""
"0000272335" "00271184" "1" "02515" "02515" "2019-12-16 12:12:46" "" "" "SEQ-NG" "DNA" "" ""
"0000291769" "00290601" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291770" "00290602" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291771" "00290603" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291772" "00290604" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291773" "00290605" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291774" "00290606" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000307362" "00306229" "1" "03695" "03695" "2020-07-11 11:02:54" "" "" "SEQ-NG" "DNA" "" ""
"0000308287" "00307145" "1" "03753" "03753" "2020-08-04 20:52:23" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" ""
"0000313047" "00311875" "1" "00006" "00006" "2020-09-29 16:10:21" "" "" "SEQ" "DNA" "" ""
"0000328249" "00327035" "1" "03611" "03611" "2021-01-19 04:24:06" "" "" "SEQ-NG-I" "DNA" "" ""
"0000328250" "00327036" "1" "03611" "03611" "2021-01-19 04:26:21" "" "" "SEQ-NG-I" "DNA" "" ""
"0000328294" "00327080" "1" "03611" "03611" "2021-01-20 04:11:04" "" "" "SEQ-NG-I" "DNA" "" ""
"0000328314" "00327100" "1" "03611" "03611" "2021-01-20 07:19:34" "" "" "SEQ-NG-I" "DNA" "" ""
"0000328325" "00327113" "1" "03611" "03611" "2021-01-20 07:39:57" "" "" "SEQ-NG-I" "DNA" "" ""
"0000328354" "00327142" "1" "03611" "03611" "2021-01-20 08:21:56" "" "" "SEQ-NG-I" "DNA" "" ""
"0000332769" "00331550" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000379269" "00378068" "1" "01164" "01164" "2021-08-04 09:44:24" "" "" "SEQ-NG-I" "DNA" "" ""
"0000382023" "00380809" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing"
"0000397444" "00396203" "1" "01164" "01164" "2021-12-15 11:37:29" "" "" "SEQ-NG-I" "DNA" "" ""
"0000402809" "00401566" "1" "02494" "02494" "2022-02-01 08:48:40" "" "" "SEQ-NG" "DNA" "" "WES"
"0000411677" "00410414" "1" "04322" "04322" "2022-05-26 08:12:17" "" "" "SEQ-NG" "DNA" "" ""
"0000411678" "00410415" "1" "04322" "04322" "2022-05-26 08:54:41" "" "" "SEQ-NG" "DNA" "" ""
"0000416566" "00415284" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory"
"0000420834" "00419530" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000420835" "00419531" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000420836" "00419532" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000420837" "00419533" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000420838" "00419534" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000420839" "00419535" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000420840" "00419536" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000420841" "00419537" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000432609" "00431197" "1" "01164" "01164" "2023-02-01 14:41:33" "" "" "SEQ-NG-I" "DNA" "" ""
"0000434610" "00433156" "1" "01164" "01164" "2023-03-02 09:12:34" "" "" "SEQ-NG-I" "DNA" "" ""
"0000435705" "00434237" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000445311" "00443814" "1" "00006" "00006" "2023-12-03 11:44:16" "" "" "arraySNP;SEQ-NG" "DNA" "" "gene panel"
"0000451131" "00449541" "1" "00006" "00006" "2024-04-22 10:35:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 283
"{{screeningid}}" "{{geneid}}"
"0000016545" "AKT3"
"0000016545" "PIK3CA"
"0000016545" "PIK3R2"
"0000044090" "PTPN11"
"0000044091" "PTPN11"
"0000044092" "PTPN11"
"0000044094" "PTPN11"
"0000044095" "PTPN11"
"0000044096" "PTPN11"
"0000050539" "PTPN11"
"0000050590" "PTPN11"
"0000079987" "PTPN11"
"0000079988" "PTPN11"
"0000079989" "PTPN11"
"0000079990" "PTPN11"
"0000080287" "PTPN11"
"0000080288" "PTPN11"
"0000080289" "PTPN11"
"0000080290" "PTPN11"
"0000080291" "PTPN11"
"0000080292" "PTPN11"
"0000080293" "PTPN11"
"0000080294" "PTPN11"
"0000080295" "PTPN11"
"0000080296" "PTPN11"
"0000080297" "PTPN11"
"0000080298" "PTPN11"
"0000080299" "PTPN11"
"0000080300" "PTPN11"
"0000080301" "PTPN11"
"0000080302" "PTPN11"
"0000080303" "PTPN11"
"0000080304" "PTPN11"
"0000080305" "PTPN11"
"0000080306" "PTPN11"
"0000080307" "PTPN11"
"0000080308" "PTPN11"
"0000080309" "PTPN11"
"0000080310" "PTPN11"
"0000080311" "PTPN11"
"0000080312" "PTPN11"
"0000080313" "PTPN11"
"0000080314" "PTPN11"
"0000080315" "PTPN11"
"0000080316" "PTPN11"
"0000080317" "PTPN11"
"0000080318" "PTPN11"
"0000080319" "PTPN11"
"0000080320" "PTPN11"
"0000080321" "PTPN11"
"0000080322" "PTPN11"
"0000080323" "PTPN11"
"0000080324" "PTPN11"
"0000080325" "PTPN11"
"0000080326" "PTPN11"
"0000080327" "PTPN11"
"0000080328" "PTPN11"
"0000080329" "PTPN11"
"0000080330" "PTPN11"
"0000080331" "PTPN11"
"0000080332" "PTPN11"
"0000080333" "PTPN11"
"0000080334" "PTPN11"
"0000080335" "PTPN11"
"0000080336" "PTPN11"
"0000080337" "PTPN11"
"0000080338" "PTPN11"
"0000080339" "PTPN11"
"0000080340" "PTPN11"
"0000080341" "PTPN11"
"0000080342" "PTPN11"
"0000080343" "PTPN11"
"0000080344" "PTPN11"
"0000080345" "PTPN11"
"0000080346" "PTPN11"
"0000080347" "PTPN11"
"0000080348" "PTPN11"
"0000080349" "PTPN11"
"0000080350" "PTPN11"
"0000080351" "PTPN11"
"0000080352" "PTPN11"
"0000080353" "PTPN11"
"0000080354" "PTPN11"
"0000080355" "PTPN11"
"0000080356" "PTPN11"
"0000080357" "PTPN11"
"0000080358" "PTPN11"
"0000080359" "PTPN11"
"0000080360" "PTPN11"
"0000080361" "PTPN11"
"0000080362" "PTPN11"
"0000080363" "PTPN11"
"0000080364" "PTPN11"
"0000080365" "PTPN11"
"0000080366" "PTPN11"
"0000080367" "PTPN11"
"0000080368" "PTPN11"
"0000080369" "PTPN11"
"0000080370" "PTPN11"
"0000080371" "PTPN11"
"0000080372" "PTPN11"
"0000080373" "PTPN11"
"0000080374" "PTPN11"
"0000080375" "PTPN11"
"0000080376" "PTPN11"
"0000080377" "PTPN11"
"0000080378" "PTPN11"
"0000080379" "PTPN11"
"0000080380" "PTPN11"
"0000080381" "PTPN11"
"0000080382" "PTPN11"
"0000080383" "PTPN11"
"0000080384" "PTPN11"
"0000080385" "PTPN11"
"0000080386" "PTPN11"
"0000080387" "PTPN11"
"0000080388" "PTPN11"
"0000080389" "PTPN11"
"0000080390" "PTPN11"
"0000080391" "PTPN11"
"0000080392" "PTPN11"
"0000080393" "PTPN11"
"0000080394" "PTPN11"
"0000080395" "PTPN11"
"0000080396" "PTPN11"
"0000080397" "PTPN11"
"0000080398" "PTPN11"
"0000080399" "PTPN11"
"0000080400" "PTPN11"
"0000080401" "PTPN11"
"0000080402" "PTPN11"
"0000080403" "PTPN11"
"0000080404" "PTPN11"
"0000080405" "PTPN11"
"0000080406" "PTPN11"
"0000080407" "PTPN11"
"0000080408" "PTPN11"
"0000080409" "PTPN11"
"0000080410" "PTPN11"
"0000080411" "PTPN11"
"0000080412" "PTPN11"
"0000080413" "PTPN11"
"0000080414" "PTPN11"
"0000080415" "PTPN11"
"0000080416" "PTPN11"
"0000080417" "PTPN11"
"0000080418" "PTPN11"
"0000080419" "PTPN11"
"0000080420" "PTPN11"
"0000080421" "PTPN11"
"0000080422" "PTPN11"
"0000080423" "PTPN11"
"0000080424" "PTPN11"
"0000080425" "PTPN11"
"0000080426" "PTPN11"
"0000080427" "PTPN11"
"0000080428" "PTPN11"
"0000080429" "PTPN11"
"0000080430" "PTPN11"
"0000080431" "PTPN11"
"0000080432" "PTPN11"
"0000080433" "PTPN11"
"0000080434" "PTPN11"
"0000080435" "PTPN11"
"0000080436" "PTPN11"
"0000080437" "PTPN11"
"0000080438" "PTPN11"
"0000080439" "PTPN11"
"0000080440" "PTPN11"
"0000080441" "PTPN11"
"0000080442" "PTPN11"
"0000080443" "PTPN11"
"0000080444" "PTPN11"
"0000080445" "PTPN11"
"0000080446" "PTPN11"
"0000080447" "PTPN11"
"0000080448" "PTPN11"
"0000080449" "PTPN11"
"0000080450" "PTPN11"
"0000080451" "PTPN11"
"0000080452" "PTPN11"
"0000080453" "PTPN11"
"0000080454" "PTPN11"
"0000080455" "PTPN11"
"0000080456" "PTPN11"
"0000080457" "PTPN11"
"0000080458" "PTPN11"
"0000080459" "PTPN11"
"0000080460" "PTPN11"
"0000080461" "PTPN11"
"0000080462" "PTPN11"
"0000080463" "PTPN11"
"0000080464" "PTPN11"
"0000080465" "PTPN11"
"0000080466" "PTPN11"
"0000080467" "PTPN11"
"0000080468" "PTPN11"
"0000080469" "PTPN11"
"0000080470" "PTPN11"
"0000080471" "PTPN11"
"0000080472" "PTPN11"
"0000080473" "PTPN11"
"0000080474" "PTPN11"
"0000080475" "PTPN11"
"0000080476" "PTPN11"
"0000080477" "PTPN11"
"0000080478" "PTPN11"
"0000080479" "PTPN11"
"0000080480" "PTPN11"
"0000080481" "PTPN11"
"0000080482" "PTPN11"
"0000080483" "PTPN11"
"0000080484" "PTPN11"
"0000080485" "PTPN11"
"0000080486" "PTPN11"
"0000080487" "PTPN11"
"0000080488" "PTPN11"
"0000080489" "PTPN11"
"0000080490" "PTPN11"
"0000080491" "PTPN11"
"0000080492" "PTPN11"
"0000080493" "PTPN11"
"0000080494" "PTPN11"
"0000080495" "PTPN11"
"0000080496" "PTPN11"
"0000080497" "PTPN11"
"0000080498" "PTPN11"
"0000080499" "PTPN11"
"0000080500" "PTPN11"
"0000080501" "PTPN11"
"0000080502" "PTPN11"
"0000080503" "PTPN11"
"0000080504" "PTPN11"
"0000080505" "PTPN11"
"0000080506" "PTPN11"
"0000080507" "PTPN11"
"0000080508" "PTPN11"
"0000080509" "PTPN11"
"0000080510" "PTPN11"
"0000080511" "PTPN11"
"0000080512" "PTPN11"
"0000080513" "PTPN11"
"0000080514" "PTPN11"
"0000080515" "PTPN11"
"0000080516" "PTPN11"
"0000080517" "PTPN11"
"0000080518" "PTPN11"
"0000080519" "PTPN11"
"0000080520" "PTPN11"
"0000080521" "PTPN11"
"0000080522" "PTPN11"
"0000080523" "PTPN11"
"0000080524" "PTPN11"
"0000080525" "PTPN11"
"0000080526" "PTPN11"
"0000080527" "PTPN11"
"0000080528" "PTPN11"
"0000080529" "PTPN11"
"0000080530" "PTPN11"
"0000080531" "PTPN11"
"0000080532" "PTPN11"
"0000080533" "PTPN11"
"0000080534" "PTPN11"
"0000080535" "PTPN11"
"0000081123" "PTPN11"
"0000081887" "PTPN11"
"0000081888" "PTPN11"
"0000081889" "PTPN11"
"0000081890" "PTPN11"
"0000103713" "PTPN11"
"0000184637" "PTPN11"
"0000272335" "PTPN11"
"0000307362" "PTPN11"
"0000308287" "RB1"
"0000313047" "PTPN11"
"0000332769" "PTPN11"
"0000379269" "PTPN11"
"0000397444" "PTPN11"
"0000411677" "PTPN11"
"0000411678" "PTPN11"
"0000416566" "PTPN11"
"0000432609" "PTPN11"
"0000434610" "PTPN11"
## Variants_On_Genome ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Count = 579
"{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}"
"0000036402" "0" "95" "12" "112926909" "112926909" "subst" "4.06058E-6" "00708" "PTPN11_000007" "g.112926909A>G" "" "{PMID:Döcker 2015:24939587}, {DOI:Döcker 2015:10.1038/ejhg.2014.118}" "" "" "" "De novo" "" "" "0" "" "" "g.112489105A>G" "" "pathogenic (dominant)" ""
"0000071905" "0" "70" "12" "112888165" "112888165" "subst" "0" "00034" "PTPN11_000006" "g.112888165G>A" "" "{PMID:Joyce 2016:26242988}" "" "" "" "Unknown" "?" "rs397507510" "0" "" "" "g.112450361G>A" "" "likely pathogenic" ""
"0000071906" "0" "70" "12" "112888166" "112888166" "subst" "0" "00034" "PTPN11_000005" "g.112888166A>G" "" "{PMID:Joyce 2016:26242988}" "" "" "" "De novo" "-" "rs121918461" "0" "" "" "g.112450362A>G" "" "likely pathogenic" ""
"0000071907" "0" "70" "12" "112888172" "112888172" "subst" "8.13749E-6" "00034" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Joyce 2016:26242988}" "" "" "" "Unknown" "?" "rs121918459" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000071908" "0" "70" "12" "112910793" "112910793" "subst" "0" "00034" "PTPN11_000003" "g.112910793G>A" "" "{PMID:Joyce 2016:26242988}" "" "" "" "Unknown" "?" "rs397507527" "0" "" "" "g.112472989G>A" "" "likely pathogenic" ""
"0000071909" "0" "70" "12" "112926884" "112926884" "subst" "0" "00034" "PTPN11_000002" "g.112926884T>G" "" "{PMID:Joyce 2016:26242988}" "" "" "" "De novo" "-" "rs121918458" "0" "" "" "g.112489080T>G" "" "likely pathogenic" ""
"0000071910" "0" "70" "12" "112926890" "112926890" "subst" "4.06065E-6" "00034" "PTPN11_000001" "g.112926890A>G" "" "{PMID:Joyce 2016:26242988}" "" "" "" "Unknown" "?" "rs397507547" "0" "" "" "g.112489086A>G" "" "likely pathogenic" ""
"0000079519" "0" "90" "12" "112926887" "112926887" "subst" "0" "00006" "PTPN11_000008" "g.112926887G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.112489083G>A" "" "pathogenic" ""
"0000079570" "0" "90" "12" "112888168" "112888168" "subst" "0" "00006" "PTPN11_000009" "g.112888168T>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.112450364T>G" "" "pathogenic" ""
"0000128862" "0" "50" "12" "112892440" "112892440" "subst" "0" "01742" "PTPN11_000012" "g.112892440A>T" "" "{PMID:Carapito 2014:24225993}" "" "" "" "Germline" "" "" "0" "" "" "g.112454636A>T" "" "VUS" ""
"0000128863" "0" "50" "12" "112888166" "112888166" "subst" "0" "01742" "PTPN11_000011" "g.112888166A>C" "" "{PMID:Chen 2009:19927903}" "" "" "" "Germline" "" "" "0" "" "" "g.112450362A>C" "" "VUS" ""
"0000128864" "0" "50" "12" "112888150" "112888150" "subst" "0" "01742" "PTPN11_000013" "g.112888150A>G" "" "{PMID:Atik 2016:26817465}" "" "" "one parent carried the same variant" "Germline" "" "" "0" "" "" "g.112450346A>G" "" "VUS" ""
"0000128865" "0" "50" "12" "112888159" "112888159" "subst" "4.06918E-6" "01742" "PTPN11_000010" "g.112888159A>G" "" "{PMID:Ko 2008:19020799}" "" "" "" "De novo" "?" "" "0" "" "" "g.112450355A>G" "" "VUS" ""
"0000129245" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000027" "g.112888199C>A" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>A" "" "likely pathogenic" ""
"0000129246" "0" "77" "12" "112884189" "112884189" "subst" "0" "00002" "PTPN11_000046" "g.112884189A>G" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112446385A>G" "" "likely pathogenic" ""
"0000129247" "0" "77" "12" "112884189" "112884189" "subst" "0" "00002" "PTPN11_000046" "g.112884189A>G" "" "{PMID:Zenker, M et al. (2004):15001945}" "" "" "" "Unknown" "" "" "0" "" "" "g.112446385A>G" "" "likely pathogenic" ""
"0000129248" "0" "77" "12" "112888156" "112888156" "subst" "0" "00002" "PTPN11_000040" "g.112888156A>G" "" "{PMID:Zenker, M et al. (2004):15001945}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450352A>G" "" "likely pathogenic" ""
"0000129249" "0" "77" "12" "112888158" "112888158" "subst" "0" "00002" "PTPN11_000042" "g.112888158C>G" "" "{PMID:Musante, L et al. (2003):12634870}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450354C>G" "" "likely pathogenic" ""
"0000129250" "0" "77" "12" "112884189" "112884189" "subst" "0" "00002" "PTPN11_000046" "g.112884189A>G" "" "{PMID:Sarkozy, A et al. (2003):12960218}" "" "" "" "Unknown" "" "" "0" "" "" "g.112446385A>G" "" "likely pathogenic" ""
"0000129251" "0" "77" "12" "112884189" "112884189" "subst" "0" "00002" "PTPN11_000046" "g.112884189A>G" "" "{PMID:Sarkozy, A et al. (2003):12960218}" "" "" "" "Unknown" "" "" "0" "" "" "g.112446385A>G" "" "likely pathogenic" ""
"0000129252" "0" "77" "12" "112884189" "112884189" "subst" "0" "00002" "PTPN11_000046" "g.112884189A>G" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112446385A>G" "" "likely pathogenic" ""
"0000129253" "0" "77" "12" "112888211" "112888211" "subst" "0" "00002" "PTPN11_000016" "g.112888211A>G" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450407A>G" "" "likely pathogenic" ""
"0000129254" "0" "77" "12" "112888211" "112888211" "subst" "0" "00002" "PTPN11_000016" "g.112888211A>G" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450407A>G" "" "likely pathogenic" ""
"0000129255" "0" "77" "12" "112888211" "112888211" "subst" "0" "00002" "PTPN11_000016" "g.112888211A>G" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450407A>G" "" "likely pathogenic" ""
"0000129256" "0" "77" "12" "112888211" "112888211" "subst" "0" "00002" "PTPN11_000016" "g.112888211A>G" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450407A>G" "" "likely pathogenic" ""
"0000129257" "0" "77" "12" "112888156" "112888156" "subst" "0" "00002" "PTPN11_000041" "g.112888156A>T" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450352A>T" "" "likely pathogenic" ""
"0000129258" "0" "77" "12" "112888211" "112888211" "subst" "0" "00002" "PTPN11_000016" "g.112888211A>G" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450407A>G" "" "likely pathogenic" ""
"0000129259" "0" "77" "12" "112888211" "112888211" "subst" "0" "00002" "PTPN11_000016" "g.112888211A>G" "" "{PMID:Loh, M. L et al. (2004):14644997}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450407A>G" "" "likely pathogenic" ""
"0000129260" "0" "77" "12" "112888211" "112888211" "subst" "0" "00002" "PTPN11_000016" "g.112888211A>G" "" "{PMID:Loh, M. L et al. (2004):14644997}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450407A>G" "" "likely pathogenic" ""
"0000129261" "0" "77" "12" "112888220" "112888220" "subst" "0" "00002" "PTPN11_000021" "g.112888220A>G" "" "{PMID:Musante, L et al. (2003):12634870}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450416A>G" "" "likely pathogenic" ""
"0000129262" "0" "77" "12" "112888220" "112888220" "subst" "0" "00002" "PTPN11_000021" "g.112888220A>G" "" "{PMID:Tartaglia, M et al. (2001):11704759}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450416A>G" "" "likely pathogenic" ""
"0000129263" "0" "77" "12" "112888220" "112888220" "subst" "0" "00002" "PTPN11_000021" "g.112888220A>G" "" "{PMID:Zenker, M et al. (2004):15001945}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450416A>G" "" "likely pathogenic" ""
"0000129264" "0" "77" "12" "112888220" "112888220" "subst" "0" "00002" "PTPN11_000021" "g.112888220A>G" "" "{PMID:Schollen, E et al. (2003):12529711}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450416A>G" "" "likely pathogenic" ""
"0000129265" "0" "77" "12" "112888220" "112888220" "subst" "0" "00002" "PTPN11_000021" "g.112888220A>G" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450416A>G" "" "likely pathogenic" ""
"0000129266" "0" "77" "12" "112888220" "112888220" "subst" "0" "00002" "PTPN11_000021" "g.112888220A>G" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450416A>G" "" "likely pathogenic" ""
"0000129267" "0" "77" "12" "112888220" "112888220" "subst" "0" "00002" "PTPN11_000021" "g.112888220A>G" "" "{PMID:Tartaglia, M et al. (2001):11704759}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450416A>G" "" "likely pathogenic" ""
"0000129268" "0" "77" "12" "112888220" "112888220" "subst" "0" "00002" "PTPN11_000021" "g.112888220A>G" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450416A>G" "" "likely pathogenic" ""
"0000129269" "0" "77" "12" "112891083" "112891083" "subst" "0" "00002" "PTPN11_000023" "g.112891083G>C" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112453279G>C" "" "likely pathogenic" ""
"0000129270" "0" "77" "12" "112888220" "112888220" "subst" "0" "00002" "PTPN11_000021" "g.112888220A>G" "" "{PMID:Zenker, M et al. (2004):15001945}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450416A>G" "" "likely pathogenic" ""
"0000129271" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Zenker, M et al. (2004):15001945}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129272" "0" "77" "12" "112888189" "112888189" "subst" "0" "00002" "PTPN11_000036" "g.112888189G>A" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450385G>A" "" "likely pathogenic" ""
"0000129273" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Musante, L et al. (2003):12634870}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129274" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Maheshwari, M et al. (2002):12325025}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129275" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Maheshwari, M et al. (2002):12325025}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129276" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Zenker, M et al. (2004):15001945}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129277" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Kosaki, K et al. (2002):12161469}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129278" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Musante, L et al. (2003):12634870}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129279" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Musante, L et al. (2003):12634870}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129280" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Musante, L et al. (2003):12634870}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129281" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Sarkozy, A et al. (2003):12960218}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129282" "0" "77" "12" "112888168" "112888168" "subst" "0" "00002" "PTPN11_000009" "g.112888168T>G" "" "{PMID:Zenker, M et al. (2004):15001945}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450364T>G" "" "likely pathogenic" ""
"0000129283" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Sarkozy, A et al. (2003):12960218}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129284" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Sarkozy, A et al. (2003):12960218}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129285" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129286" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129287" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129288" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129289" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Kosaki, K et al. (2002):12161469}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129290" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Tartaglia, M et al. (2001):11704759}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129291" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129292" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129293" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129294" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129295" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129296" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129297" "0" "77" "12" "112888220" "112888220" "subst" "0" "00002" "PTPN11_000022" "g.112888220A>C" "" "{PMID:Sarkozy, A et al. (2003):12960218}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450416A>C" "" "likely pathogenic" ""
"0000129298" "0" "77" "12" "112888220" "112888220" "subst" "0" "00002" "PTPN11_000022" "g.112888220A>C" "" "{PMID:Sarkozy, A et al. (2003):12960218}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450416A>C" "" "likely pathogenic" ""
"0000129299" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000015" "g.112888210G>C" "" "{PMID:Loh, M. L et al. (2004):14644997}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>C" "" "likely pathogenic" ""
"0000129300" "0" "77" "12" "112888211" "112888211" "subst" "0" "00002" "PTPN11_000017" "g.112888211A>T" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450407A>T" "" "likely pathogenic" ""
"0000129301" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000015" "g.112888210G>C" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>C" "" "likely pathogenic" ""
"0000129302" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000015" "g.112888210G>C" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>C" "" "likely pathogenic" ""
"0000129303" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129304" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Yamamoto, T et al. (2006):16533526}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129305" "0" "77" "12" "112888220" "112888220" "subst" "0" "00002" "PTPN11_000021" "g.112888220A>G" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450416A>G" "" "likely pathogenic" ""
"0000129306" "0" "77" "12" "112888220" "112888220" "subst" "0" "00002" "PTPN11_000021" "g.112888220A>G" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450416A>G" "" "likely pathogenic" ""
"0000129307" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000032" "g.112888198G>A" "" "{PMID:Hou, H. A et al. (2007):17972951}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000129308" "0" "77" "12" "112888202" "112888202" "subst" "0" "00002" "PTPN11_000030" "g.112888202C>T" "" "{PMID:Hou, H. A et al. (2007):17972951}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450398C>T" "" "likely pathogenic" ""
"0000129309" "0" "77" "12" "112888195" "112888195" "subst" "0" "00002" "PTPN11_000038" "g.112888195T>C" "" "{PMID:Hou, H. A et al. (2007):17972951}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450391T>C" "" "likely pathogenic" ""
"0000129310" "0" "77" "12" "112888211" "112888211" "subst" "0" "00002" "PTPN11_000016" "g.112888211A>G" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450407A>G" "" "likely pathogenic" ""
"0000129311" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129312" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Hou, H. A et al. (2007):17972951}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129313" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129314" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000028" "g.112888199C>T" "" "{PMID:Hou, H. A et al. (2007):17972951}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000129315" "0" "77" "12" "112888168" "112888168" "subst" "0" "00002" "PTPN11_000009" "g.112888168T>G" "" "{PMID:Sarkozy, A et al. (2003):12960218}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450364T>G" "" "likely pathogenic" ""
"0000129316" "0" "77" "12" "112888168" "112888168" "subst" "0" "00002" "PTPN11_000009" "g.112888168T>G" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450364T>G" "" "likely pathogenic" ""
"0000129317" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000006" "g.112888165G>A" "" "{PMID:Loh, M. L et al. (2004):14644997}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>A" "" "likely pathogenic" ""
"0000129318" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000006" "g.112888165G>A" "" "{PMID:Musante, L et al. (2003):12634870}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>A" "" "likely pathogenic" ""
"0000129319" "0" "77" "12" "112888168" "112888168" "subst" "0" "00002" "PTPN11_000009" "g.112888168T>G" "" "{PMID:Musante, L et al. (2003):12634870}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450364T>G" "" "likely pathogenic" ""
"0000129320" "0" "77" "12" "112888168" "112888168" "subst" "0" "00002" "PTPN11_000009" "g.112888168T>G" "" "{PMID:Maheshwari, M et al. (2002):12325025}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450364T>G" "" "likely pathogenic" ""
"0000129321" "0" "77" "12" "112888168" "112888168" "subst" "0" "00002" "PTPN11_000009" "g.112888168T>G" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450364T>G" "" "likely pathogenic" ""
"0000129322" "0" "77" "12" "112888168" "112888168" "subst" "0" "00002" "PTPN11_000009" "g.112888168T>G" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450364T>G" "" "likely pathogenic" ""
"0000129323" "0" "77" "12" "112888168" "112888168" "subst" "0" "00002" "PTPN11_000009" "g.112888168T>G" "" "{PMID:Zenker, M et al. (2004):15001945}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450364T>G" "" "likely pathogenic" ""
"0000129324" "0" "77" "12" "112888168" "112888168" "subst" "0" "00002" "PTPN11_000009" "g.112888168T>G" "" "{PMID:Zenker, M et al. (2004):15001945}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450364T>G" "" "likely pathogenic" ""
"0000129325" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Becker, K et al. (2007):17497712}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129326" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000028" "g.112888199C>T" "" "{PMID:Flotho, C et al. (2007):17353900}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000129327" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000034" "g.112888165G>T" "" "{PMID:Flotho, C et al. (2007):17353900}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>T" "" "likely pathogenic" ""
"0000129328" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000033" "g.112888198G>T" "" "{PMID:Kosaki, K et al. (2002):12161469}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>T" "" "likely pathogenic" ""
"0000129329" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000033" "g.112888198G>T" "" "{PMID:Tartaglia, M et al. (2001):11704759}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>T" "" "likely pathogenic" ""
"0000129330" "0" "77" "12" "112888189" "112888189" "subst" "0" "00002" "PTPN11_000036" "g.112888189G>A" "" "{PMID:Paulsson, K et al. (2008):17910045}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450385G>A" "" "likely pathogenic" ""
"0000129331" "0" "77" "12" "112888172" "112888172" "subst" "8.13749E-6" "00002" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Becker, K et al. (2007):17497712}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450368A>G" "" "likely pathogenic" ""
"0000129332" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000029" "g.112888199C>G" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>G" "" "likely pathogenic" ""
"0000129333" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000029" "g.112888199C>G" "" "{PMID:Zenker, M et al. (2004):15001945}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>G" "" "likely pathogenic" ""
"0000129334" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000027" "g.112888199C>A" "" "{PMID:Chen, Y et al. (2006):16518851}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>A" "" "likely pathogenic" ""
"0000129335" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000035" "g.112888166A>T" "" "{PMID:Paulsson, K et al. (2008):17910045}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>T" "" "likely pathogenic" ""
"0000129336" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000029" "g.112888199C>G" "" "{PMID:Sarkozy, A et al. (2003):12960218}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>G" "" "likely pathogenic" ""
"0000129337" "0" "77" "12" "112888197" "112888197" "subst" "0" "00002" "PTPN11_000031" "g.112888197T>A" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450393T>A" "" "likely pathogenic" ""
"0000129338" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000029" "g.112888199C>G" "" "{PMID:Tartaglia, M et al. (2001):11704759}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>G" "" "likely pathogenic" ""
"0000129339" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000029" "g.112888199C>G" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>G" "" "likely pathogenic" ""
"0000129340" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129341" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129342" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129343" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129344" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129345" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Loh, M. L et al. (2004):14644997}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129346" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129347" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129348" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129349" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129350" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000006" "g.112888165G>A" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>A" "" "likely pathogenic" ""
"0000129351" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000034" "g.112888165G>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>T" "" "likely pathogenic" ""
"0000129352" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000034" "g.112888165G>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>T" "" "likely pathogenic" ""
"0000129353" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000034" "g.112888165G>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>T" "" "likely pathogenic" ""
"0000129354" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000034" "g.112888165G>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>T" "" "likely pathogenic" ""
"0000129355" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000034" "g.112888165G>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>T" "" "likely pathogenic" ""
"0000129356" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000034" "g.112888165G>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>T" "" "likely pathogenic" ""
"0000129357" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000034" "g.112888165G>T" "" "{PMID:Loh, M. L et al. (2004):14644997}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>T" "" "likely pathogenic" ""
"0000129358" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000034" "g.112888165G>T" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>T" "" "likely pathogenic" ""
"0000129359" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000034" "g.112888165G>T" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>T" "" "likely pathogenic" ""
"0000129360" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000034" "g.112888165G>T" "" "{PMID:Flotho, C et al. (2007):17353900}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>T" "" "likely pathogenic" ""
"0000129361" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000034" "g.112888165G>T" "" "{PMID:Flotho, C et al. (2007):17353900}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>T" "" "likely pathogenic" ""
"0000129362" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000032" "g.112888198G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000129363" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000032" "g.112888198G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000129364" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000032" "g.112888198G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000129365" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000032" "g.112888198G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000129366" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000032" "g.112888198G>A" "" "{PMID:Loh, M. L et al. (2004):14644997}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000129367" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000032" "g.112888198G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000129368" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000032" "g.112888198G>A" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000129369" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000032" "g.112888198G>A" "" "{PMID:Loh, M. L et al. (2004):14644997}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000129370" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000032" "g.112888198G>A" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000129371" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000032" "g.112888198G>A" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000129372" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129373" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000028" "g.112888199C>T" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000129374" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129375" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129376" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129377" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129378" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129379" "0" "77" "12" "112888211" "112888211" "subst" "0" "00002" "PTPN11_000016" "g.112888211A>G" "" "{PMID:Hou, H. A et al. (2007):17972951}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450407A>G" "" "likely pathogenic" ""
"0000129380" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129381" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000015" "g.112888210G>C" "" "{PMID:Hou, H. A et al. (2007):17972951}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>C" "" "likely pathogenic" ""
"0000129382" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129383" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129384" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Chen, C. Y et al. (2006):16598312}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129385" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000034" "g.112888165G>T" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>T" "" "likely pathogenic" ""
"0000129386" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000034" "g.112888165G>T" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>T" "" "likely pathogenic" ""
"0000129387" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000035" "g.112888166A>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>T" "" "likely pathogenic" ""
"0000129388" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000035" "g.112888166A>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>T" "" "likely pathogenic" ""
"0000129389" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000035" "g.112888166A>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>T" "" "likely pathogenic" ""
"0000129390" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000035" "g.112888166A>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>T" "" "likely pathogenic" ""
"0000129391" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000035" "g.112888166A>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>T" "" "likely pathogenic" ""
"0000129392" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000035" "g.112888166A>T" "" "{PMID:Chen, Y et al. (2006):16518851}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>T" "" "likely pathogenic" ""
"0000129393" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000034" "g.112888165G>T" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>T" "" "likely pathogenic" ""
"0000129394" "0" "77" "12" "112888165" "112888165" "subst" "0" "00002" "PTPN11_000034" "g.112888165G>T" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450361G>T" "" "likely pathogenic" ""
"0000129395" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000028" "g.112888199C>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000129396" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000028" "g.112888199C>T" "" "{PMID:Loh, M. L et al. (2004):14644997}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000129397" "0" "77" "12" "112888189" "112888189" "subst" "0" "00002" "PTPN11_000036" "g.112888189G>A" "" "{PMID:Hou, H. A et al. (2007):17972951}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450385G>A" "" "likely pathogenic" ""
"0000129398" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000028" "g.112888199C>T" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000129399" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000028" "g.112888199C>T" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000129400" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000032" "g.112888198G>A" "" "{PMID:Chen, Y et al. (2006):16518851}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000129401" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000028" "g.112888199C>T" "" "{PMID:Loh, M. L et al. (2004):14644997}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000129402" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000028" "g.112888199C>T" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000129403" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000028" "g.112888199C>T" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000129404" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000028" "g.112888199C>T" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000129405" "0" "77" "12" "112891121" "112891121" "subst" "1.21898E-5" "00002" "PTPN11_000025" "g.112891121G>A" "" "{PMID:Chen, Y et al. (2006):16518851}" "" "" "" "Unknown" "" "" "0" "" "" "g.112453317G>A" "" "likely pathogenic" ""
"0000129406" "0" "77" "12" "112888202" "112888202" "subst" "0" "00002" "PTPN11_000030" "g.112888202C>T" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450398C>T" "" "likely pathogenic" ""
"0000129407" "0" "77" "12" "112888202" "112888202" "subst" "0" "00002" "PTPN11_000030" "g.112888202C>T" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450398C>T" "" "likely pathogenic" ""
"0000129408" "0" "77" "12" "112888202" "112888202" "subst" "0" "00002" "PTPN11_000030" "g.112888202C>T" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450398C>T" "" "likely pathogenic" ""
"0000129409" "0" "77" "12" "112888202" "112888202" "subst" "0" "00002" "PTPN11_000030" "g.112888202C>T" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450398C>T" "" "likely pathogenic" ""
"0000129410" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000028" "g.112888199C>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000129411" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000028" "g.112888199C>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000129412" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000028" "g.112888199C>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000129413" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000028" "g.112888199C>T" "" "{PMID:Chen, Y et al. (2006):16518851}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000129414" "0" "77" "12" "112888202" "112888202" "subst" "0" "00002" "PTPN11_000030" "g.112888202C>T" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450398C>T" "" "likely pathogenic" ""
"0000129415" "0" "77" "12" "112888202" "112888202" "subst" "0" "00002" "PTPN11_000030" "g.112888202C>T" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450398C>T" "" "likely pathogenic" ""
"0000129416" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000028" "g.112888199C>T" "" "{PMID:Hou, H. A et al. (2007):17972951}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000129417" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000032" "g.112888198G>A" "" "{PMID:Hou, H. A et al. (2007):17972951}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000129418" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000035" "g.112888166A>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>T" "" "likely pathogenic" ""
"0000129419" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000035" "g.112888166A>T" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>T" "" "likely pathogenic" ""
"0000129420" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000005" "g.112888166A>G" "" "{PMID:Yamamoto, T et al. (2006):16533526}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>G" "" "likely pathogenic" ""
"0000129421" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000005" "g.112888166A>G" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>G" "" "likely pathogenic" ""
"0000129422" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000035" "g.112888166A>T" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>T" "" "likely pathogenic" ""
"0000129423" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000035" "g.112888166A>T" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>T" "" "likely pathogenic" ""
"0000129424" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000005" "g.112888166A>G" "" "{PMID:Zenker, M et al. (2004):15001945}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>G" "" "likely pathogenic" ""
"0000129425" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000005" "g.112888166A>G" "" "{PMID:Musante, L et al. (2003):12634870}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>G" "" "likely pathogenic" ""
"0000129426" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000005" "g.112888166A>G" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>G" "" "likely pathogenic" ""
"0000129427" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000005" "g.112888166A>G" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>G" "" "likely pathogenic" ""
"0000129428" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000032" "g.112888198G>A" "" "{PMID:Christiansen, D. H et al. (2007):17330262}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000129429" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000032" "g.112888198G>A" "" "{PMID:Christiansen, D. H et al. (2007):17330262}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000129430" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Flotho, C et al. (2007):17353900}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129431" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000032" "g.112888198G>A" "" "{PMID:Flotho, C et al. (2007):17353900}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000129432" "0" "77" "12" "112888198" "112888198" "subst" "0" "00002" "PTPN11_000032" "g.112888198G>A" "" "{PMID:Hou, H. A et al. (2007):17972951}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000129433" "0" "77" "12" "112891083" "112891083" "subst" "0" "00002" "PTPN11_000024" "g.112891083G>T" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112453279G>T" "" "likely pathogenic" ""
"0000129434" "0" "77" "12" "112891083" "112891083" "subst" "0" "00002" "PTPN11_000023" "g.112891083G>C" "" "{PMID:Loh, M. L et al. (2004):14644997}" "" "" "" "Unknown" "" "" "0" "" "" "g.112453279G>C" "" "likely pathogenic" ""
"0000129435" "0" "77" "12" "112888202" "112888202" "subst" "0" "00002" "PTPN11_000030" "g.112888202C>T" "" "{PMID:Kosaki, K et al. (2002):12161469}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450398C>T" "" "likely pathogenic" ""
"0000129436" "0" "77" "12" "112888202" "112888202" "subst" "0" "00002" "PTPN11_000030" "g.112888202C>T" "" "{PMID:Loh, M. L et al. (2004):14644997}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450398C>T" "" "likely pathogenic" ""
"0000129437" "0" "77" "12" "112888202" "112888202" "subst" "0" "00002" "PTPN11_000030" "g.112888202C>T" "" "{PMID:Zenker, M et al. (2004):15001945}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450398C>T" "" "likely pathogenic" ""
"0000129438" "0" "77" "12" "112888202" "112888202" "subst" "0" "00002" "PTPN11_000030" "g.112888202C>T" "" "{PMID:Musante, L et al. (2003):12634870}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450398C>T" "" "likely pathogenic" ""
"0000129439" "0" "77" "12" "112888202" "112888202" "subst" "0" "00002" "PTPN11_000030" "g.112888202C>T" "" "{PMID:Zenker, M et al. (2004):15001945}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450398C>T" "" "likely pathogenic" ""
"0000129440" "0" "77" "12" "112888202" "112888202" "subst" "0" "00002" "PTPN11_000030" "g.112888202C>T" "" "{PMID:Zenker, M et al. (2004):15001945}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450398C>T" "" "likely pathogenic" ""
"0000129441" "0" "77" "12" "112888202" "112888202" "subst" "0" "00002" "PTPN11_000030" "g.112888202C>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450398C>T" "" "likely pathogenic" ""
"0000129442" "0" "77" "12" "112888202" "112888202" "subst" "0" "00002" "PTPN11_000030" "g.112888202C>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450398C>T" "" "likely pathogenic" ""
"0000129443" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129444" "0" "77" "12" "112888211" "112888211" "subst" "0" "00002" "PTPN11_000018" "g.112888211A>C" "" "{PMID:Christiansen, D. H et al. (2007):17330262}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450407A>C" "" "likely pathogenic" ""
"0000129445" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Hou, H. A et al. (2007):17972951}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129446" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000005" "g.112888166A>G" "" "{PMID:Kosaki, K et al. (2002):12161469}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>G" "" "likely pathogenic" ""
"0000129447" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000005" "g.112888166A>G" "" "{PMID:Musante, L et al. (2003):12634870}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>G" "" "likely pathogenic" ""
"0000129448" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000005" "g.112888166A>G" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>G" "" "likely pathogenic" ""
"0000129449" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000005" "g.112888166A>G" "" "{PMID:Tartaglia, M et al. (2001):11704759}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>G" "" "likely pathogenic" ""
"0000129450" "0" "77" "12" "112888162" "112888162" "subst" "0" "00002" "PTPN11_000043" "g.112888162G>C" "" "{PMID:Loh, M. L et al. (2004):14644997}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450358G>C" "" "likely pathogenic" ""
"0000129451" "0" "77" "12" "112888166" "112888166" "subst" "0" "00002" "PTPN11_000005" "g.112888166A>G" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450362A>G" "" "likely pathogenic" ""
"0000129452" "0" "77" "12" "112888163" "112888163" "subst" "0" "00002" "PTPN11_000044" "g.112888163G>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450359G>T" "" "likely pathogenic" ""
"0000129453" "0" "77" "12" "112888163" "112888163" "subst" "0" "00002" "PTPN11_000044" "g.112888163G>T" "" "{PMID:Yamamoto, T et al. (2006):16533526}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450359G>T" "" "likely pathogenic" ""
"0000129454" "0" "77" "12" "112888163" "112888163" "subst" "0" "00002" "PTPN11_000044" "g.112888163G>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450359G>T" "" "likely pathogenic" ""
"0000129455" "0" "77" "12" "112888163" "112888163" "subst" "0" "00002" "PTPN11_000044" "g.112888163G>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450359G>T" "" "likely pathogenic" ""
"0000129456" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129457" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129458" "0" "77" "12" "112888212" "112888212" "subst" "0" "00002" "PTPN11_000019" "g.112888212G>C" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450408G>C" "" "likely pathogenic" ""
"0000129459" "0" "77" "12" "112888212" "112888212" "subst" "0" "00002" "PTPN11_000019" "g.112888212G>C" "" "{PMID:Tartaglia, M et al. (2001):11704759}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450408G>C" "" "likely pathogenic" ""
"0000129460" "0" "77" "12" "112888211" "112888211" "subst" "0" "00002" "PTPN11_000018" "g.112888211A>C" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450407A>C" "" "likely pathogenic" ""
"0000129461" "0" "77" "12" "112888211" "112888211" "subst" "0" "00002" "PTPN11_000018" "g.112888211A>C" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450407A>C" "" "likely pathogenic" ""
"0000129462" "0" "77" "12" "112888211" "112888211" "subst" "0" "00002" "PTPN11_000016" "g.112888211A>G" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450407A>G" "" "likely pathogenic" ""
"0000129463" "0" "77" "12" "112888211" "112888211" "subst" "0" "00002" "PTPN11_000016" "g.112888211A>G" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450407A>G" "" "likely pathogenic" ""
"0000129464" "0" "77" "12" "112888212" "112888212" "subst" "0" "00002" "PTPN11_000020" "g.112888212G>T" "" "{PMID:Musante, L et al. (2003):12634870}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450408G>T" "" "likely pathogenic" ""
"0000129465" "0" "77" "12" "112888212" "112888212" "subst" "0" "00002" "PTPN11_000020" "g.112888212G>T" "" "{PMID:Zenker, M et al. (2004):15001945}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450408G>T" "" "likely pathogenic" ""
"0000129466" "0" "77" "12" "112888199" "112888199" "subst" "0" "00002" "PTPN11_000028" "g.112888199C>T" "" "{PMID:Paulsson, K et al. (2008):17910045}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000129467" "0" "77" "12" "112888211" "112888211" "subst" "0" "00002" "PTPN11_000016" "g.112888211A>G" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450407A>G" "" "likely pathogenic" ""
"0000129468" "0" "77" "12" "112888211" "112888211" "subst" "0" "00002" "PTPN11_000016" "g.112888211A>G" "" "{PMID:Loh, M. L et al. (2004):14644997}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450407A>G" "" "likely pathogenic" ""
"0000129469" "0" "77" "12" "112888202" "112888202" "subst" "0" "00002" "PTPN11_000030" "g.112888202C>T" "" "{PMID:Paulsson, K et al. (2008):17910045}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450398C>T" "" "likely pathogenic" ""
"0000129470" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Loh, M. L et al. (2004):14644997}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129471" "0" "77" "12" "112888163" "112888163" "subst" "0" "00002" "PTPN11_000044" "g.112888163G>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450359G>T" "" "likely pathogenic" ""
"0000129472" "0" "77" "12" "112888163" "112888163" "subst" "0" "00002" "PTPN11_000044" "g.112888163G>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450359G>T" "" "likely pathogenic" ""
"0000129473" "0" "77" "12" "112888210" "112888210" "subst" "0" "00002" "PTPN11_000014" "g.112888210G>A" "" "{PMID:Loh, M. L et al. (2004):14644997}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450406G>A" "" "likely pathogenic" ""
"0000129474" "0" "77" "12" "112888163" "112888163" "subst" "0" "00002" "PTPN11_000044" "g.112888163G>T" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450359G>T" "" "likely pathogenic" ""
"0000129475" "0" "77" "12" "112888163" "112888163" "subst" "0" "00002" "PTPN11_000045" "g.112888163G>C" "" "{PMID:Roti, G et al. (2006):16643459}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450359G>C" "" "likely pathogenic" ""
"0000129476" "0" "77" "12" "112888163" "112888163" "subst" "0" "00002" "PTPN11_000045" "g.112888163G>C" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450359G>C" "" "likely pathogenic" ""
"0000129477" "0" "77" "12" "112888163" "112888163" "subst" "0" "00002" "PTPN11_000045" "g.112888163G>C" "" "{PMID:Tartaglia, M et al. (2002):11992261}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450359G>C" "" "likely pathogenic" ""
"0000129478" "0" "77" "12" "112888163" "112888163" "subst" "0" "00002" "PTPN11_000044" "g.112888163G>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450359G>T" "" "likely pathogenic" ""
"0000129479" "0" "77" "12" "112888163" "112888163" "subst" "0" "00002" "PTPN11_000044" "g.112888163G>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450359G>T" "" "likely pathogenic" ""
"0000129480" "0" "77" "12" "112888163" "112888163" "subst" "0" "00002" "PTPN11_000044" "g.112888163G>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450359G>T" "" "likely pathogenic" ""
"0000129481" "0" "77" "12" "112888163" "112888163" "subst" "0" "00002" "PTPN11_000044" "g.112888163G>T" "" "{PMID:Kratz, C. P et al. (2005):15928039}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450359G>T" "" "likely pathogenic" ""
"0000129482" "0" "77" "12" "112888189" "112888189" "subst" "0" "00002" "PTPN11_000036" "g.112888189G>A" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450385G>A" "" "likely pathogenic" ""
"0000129483" "0" "77" "12" "112888189" "112888189" "subst" "0" "00002" "PTPN11_000036" "g.112888189G>A" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450385G>A" "" "likely pathogenic" ""
"0000129484" "0" "77" "12" "112888189" "112888189" "subst" "0" "00002" "PTPN11_000036" "g.112888189G>A" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450385G>A" "" "likely pathogenic" ""
"0000129485" "0" "77" "12" "112888189" "112888189" "subst" "0" "00002" "PTPN11_000036" "g.112888189G>A" "" "{PMID:Tartaglia, M et al. (2004):14982869}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450385G>A" "" "likely pathogenic" ""
"0000129486" "0" "77" "12" "112888189" "112888189" "subst" "0" "00002" "PTPN11_000037" "g.112888189G>C" "" "{PMID:Musante, L et al. (2003):12634870}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450385G>C" "" "likely pathogenic" ""
"0000129487" "0" "77" "12" "112888189" "112888189" "subst" "0" "00002" "PTPN11_000036" "g.112888189G>A" "" "{PMID:Yamamoto, T et al. (2006):16533526}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450385G>A" "" "likely pathogenic" ""
"0000129488" "0" "77" "12" "112888189" "112888189" "subst" "0" "00002" "PTPN11_000036" "g.112888189G>A" "" "{PMID:Loh, M. L et al. (2004):14644997}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450385G>A" "" "likely pathogenic" ""
"0000129489" "0" "77" "12" "112888189" "112888189" "subst" "0" "00002" "PTPN11_000036" "g.112888189G>A" "" "{PMID:Tartaglia, M et al. (2003):12717436}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450385G>A" "" "likely pathogenic" ""
"0000129490" "0" "77" "12" "112888189" "112888189" "subst" "0" "00002" "PTPN11_000037" "g.112888189G>C" "" "{PMID:Zenker, M et al. (2004):15001945}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450385G>C" "" "likely pathogenic" ""
"0000129491" "0" "77" "12" "112888202" "112888202" "subst" "0" "00002" "PTPN11_000030" "g.112888202C>T" "" "{PMID:Paulsson, K et al. (2008):17910045}" "" "" "" "Unknown" "" "" "0" "" "" "g.112450398C>T" "" "likely pathogenic" ""
"0000129492" "0" "55" "12" "112888195" "112888197" "inv" "0" "00002" "PTPN11_000039" "g.112888195_112888197inv" "" "{PMID:Tartaglia et al. (2003):12717436}" "" "211-213TTT>AAA" "" "De novo" "" "" "0" "" "" "g.112450391_112450393inv" "" "VUS" ""
"0000129493" "0" "77" "12" "" "" "" "" "00002" "PTPN11_000048" "g.112891083G>?" "" "{PMID:Karow et al. (2007):17361219}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000130209" "0" "90" "12" "112915455" "112915455" "subst" "0" "01758" "PTPN11_000026" "g.112915455T>C" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.112477651T>C" "" "pathogenic" "ACMG"
"0000132590" "0" "50" "12" "112892440" "112892440" "subst" "0" "00006" "PTPN11_000012" "g.112892440A>T" "" "{PMID:Carapito 2014:24225993}" "" "" "" "Germline" "" "" "0" "" "" "g.112454636A>T" "" "VUS" ""
"0000132591" "0" "50" "12" "112888166" "112888166" "subst" "0" "00006" "PTPN11_000011" "g.112888166A>C" "" "{PMID:Chen 2009:19927903}" "" "" "" "Germline" "" "" "0" "" "" "g.112450362A>C" "" "VUS" ""
"0000132592" "0" "50" "12" "112888150" "112888150" "subst" "0" "00006" "PTPN11_000013" "g.112888150A>G" "" "{PMID:Atik 2016:26817465}" "" "" "" "Germline" "" "" "0" "" "" "g.112450346A>G" "" "VUS" ""
"0000132593" "0" "50" "12" "112888159" "112888159" "subst" "4.06918E-6" "00006" "PTPN11_000010" "g.112888159A>G" "" "{PMID:Ko 2008:19020799}" "" "" "" "Germline" "" "" "0" "" "" "g.112450355A>G" "" "VUS" ""
"0000167207" "1" "55" "12" "112915523" "112915523" "subst" "1.21851E-5" "00002" "PTPN11_000047" "g.112915523A>G" "" "{PMID:Siegfried 2017:28328117}" "" "" "" "Germline" "?" "" "0" "" "" "g.112477719A>G" "" "VUS" ""
"0000247106" "0" "10" "12" "112915717" "112915717" "subst" "4.46744E-5" "02330" "PTPN11_000099" "g.112915717A>C" "" "" "" "PTPN11(NM_002834.3):c.990A>C (p.(Thr330=)), PTPN11(NM_002834.5):c.990A>C (p.T330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112477913A>C" "" "benign" ""
"0000294575" "0" "10" "12" "112919869" "112919869" "subst" "0.0177554" "02330" "PTPN11_000100" "g.112919869C>A" "" "" "" "PTPN11(NM_001330437.1):c.1093-9C>A (p.(=)), PTPN11(NM_002834.3):c.1093-9C>A, PTPN11(NM_002834.5):c.1093-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112482065C>A" "" "benign" ""
"0000294576" "0" "10" "12" "112888239" "112888239" "subst" "0.00561327" "02330" "PTPN11_000049" "g.112888239C>T" "" "" "" "PTPN11(NM_001330437.1):c.255C>T (p.(His85=)), PTPN11(NM_002834.5):c.255C>T (p.H85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450435C>T" "" "benign" ""
"0000294577" "0" "10" "12" "112891203" "112891203" "subst" "0.00994303" "02330" "PTPN11_000050" "g.112891203G>C" "" "" "" "PTPN11(NM_001330437.1):c.525+12G>C (p.(=)), PTPN11(NM_002834.3):c.525+12G>C, PTPN11(NM_002834.5):c.525+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112453399G>C" "" "benign" ""
"0000294578" "0" "10" "12" "112892360" "112892360" "subst" "0.000655324" "02330" "PTPN11_000051" "g.112892360C>A" "" "" "" "PTPN11(NM_001330437.1):c.526-8C>A (p.(=)), PTPN11(NM_002834.3):c.526-8C>A, PTPN11(NM_002834.5):c.526-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112454556C>A" "" "benign" ""
"0000294579" "0" "30" "12" "112915533" "112915533" "subst" "0.000223396" "02330" "PTPN11_000055" "g.112915533T>C" "" "" "" "PTPN11(NM_002834.5):c.932T>C (p.M311T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112477729T>C" "" "likely benign" ""
"0000297498" "0" "90" "12" "112891083" "112891083" "subst" "0" "02325" "PTPN11_000024" "g.112891083G>T" "" "" "" "PTPN11(NM_002834.3):c.417G>T (p.(Glu139Asp)), PTPN11(NM_002834.5):c.417G>T (p.E139D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112453279G>T" "" "pathogenic" ""
"0000297499" "0" "50" "12" "112891121" "112891121" "subst" "1.21898E-5" "02325" "PTPN11_000025" "g.112891121G>A" "" "" "" "PTPN11(NM_002834.3):c.455G>A (p.R152H, p.(Arg152His)), PTPN11(NM_002834.5):c.455G>A (p.R152H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112453317G>A" "" "VUS" ""
"0000299213" "0" "10" "12" "112919869" "112919869" "subst" "0.0177554" "02329" "PTPN11_000100" "g.112919869C>A" "" "" "" "PTPN11(NM_001330437.1):c.1093-9C>A (p.(=)), PTPN11(NM_002834.3):c.1093-9C>A, PTPN11(NM_002834.5):c.1093-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112482065C>A" "" "benign" ""
"0000299214" "0" "10" "12" "112891203" "112891203" "subst" "0.00994303" "02329" "PTPN11_000050" "g.112891203G>C" "" "" "" "PTPN11(NM_001330437.1):c.525+12G>C (p.(=)), PTPN11(NM_002834.3):c.525+12G>C, PTPN11(NM_002834.5):c.525+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112453399G>C" "" "benign" ""
"0000299215" "0" "30" "12" "112892360" "112892360" "subst" "0.000655324" "02329" "PTPN11_000051" "g.112892360C>A" "" "" "" "PTPN11(NM_001330437.1):c.526-8C>A (p.(=)), PTPN11(NM_002834.3):c.526-8C>A, PTPN11(NM_002834.5):c.526-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112454556C>A" "" "likely benign" ""
"0000301305" "0" "10" "12" "112919869" "112919869" "subst" "0.0177554" "02326" "PTPN11_000100" "g.112919869C>A" "" "" "" "PTPN11(NM_001330437.1):c.1093-9C>A (p.(=)), PTPN11(NM_002834.3):c.1093-9C>A, PTPN11(NM_002834.5):c.1093-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112482065C>A" "" "benign" ""
"0000301306" "0" "70" "12" "112888163" "112888163" "subst" "0" "02326" "PTPN11_000045" "g.112888163G>C" "" "" "" "PTPN11(NM_002834.3):c.179G>C (p.G60A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450359G>C" "" "likely pathogenic" ""
"0000301307" "0" "30" "12" "112891203" "112891203" "subst" "0.00994303" "02326" "PTPN11_000050" "g.112891203G>C" "" "" "" "PTPN11(NM_001330437.1):c.525+12G>C (p.(=)), PTPN11(NM_002834.3):c.525+12G>C, PTPN11(NM_002834.5):c.525+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112453399G>C" "" "likely benign" ""
"0000301308" "0" "30" "12" "112892407" "112892407" "subst" "0" "02326" "PTPN11_000052" "g.112892407T>G" "" "" "" "PTPN11(NM_002834.3):c.565T>G (p.S189A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112454603T>G" "" "likely benign" ""
"0000301309" "0" "30" "12" "112892458" "112892458" "subst" "0" "02326" "PTPN11_000053" "g.112892458T>C" "" "" "" "PTPN11(NM_001330437.1):c.616T>C (p.(Leu206=)), PTPN11(NM_002834.3):c.616T>C (p.L206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112454654T>C" "" "likely benign" ""
"0000323094" "0" "50" "12" "112888158" "112888158" "subst" "0" "01804" "PTPN11_000042" "g.112888158C>G" "" "" "" "PTPN11(NM_002834.3):c.174C>G (p.(Asn58Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450354C>G" "" "VUS" ""
"0000323096" "0" "30" "12" "112892360" "112892360" "subst" "0.000655324" "01804" "PTPN11_000051" "g.112892360C>A" "" "" "" "PTPN11(NM_001330437.1):c.526-8C>A (p.(=)), PTPN11(NM_002834.3):c.526-8C>A, PTPN11(NM_002834.5):c.526-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112454556C>A" "" "likely benign" ""
"0000323097" "0" "50" "12" "112910785" "112910785" "subst" "3.30472E-5" "01804" "PTPN11_000054" "g.112910785G>A" "" "" "" "PTPN11(NM_001330437.1):c.794G>A (p.(Arg265Gln)), PTPN11(NM_002834.3):c.794G>A (p.R265Q), PTPN11(NM_002834.5):c.794G>A (p.R265Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112472981G>A" "" "VUS" ""
"0000339107" "0" "90" "12" "112888163" "112888163" "subst" "0" "02327" "PTPN11_000044" "g.112888163G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450359G>T" "" "pathogenic" ""
"0000339305" "0" "30" "12" "112892458" "112892458" "subst" "0" "02327" "PTPN11_000053" "g.112892458T>C" "" "" "" "PTPN11(NM_001330437.1):c.616T>C (p.(Leu206=)), PTPN11(NM_002834.3):c.616T>C (p.L206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112454654T>C" "" "likely benign" ""
"0000340881" "0" "30" "12" "112915750" "112915750" "subst" "1.21836E-5" "02327" "PTPN11_000078" "g.112915750T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112477946T>C" "" "likely benign" ""
"0000341455" "0" "90" "12" "112926248" "112926248" "subst" "0" "02327" "PTPN11_000080" "g.112926248G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112488444G>T" "" "pathogenic" ""
"0000341456" "0" "90" "12" "112926248" "112926248" "subst" "0" "02327" "PTPN11_000081" "g.112926248G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112488444G>A" "" "pathogenic" ""
"0000341570" "0" "90" "12" "112888199" "112888199" "subst" "0" "02327" "PTPN11_000029" "g.112888199C>G" "" "" "" "PTPN11(NM_002834.5):c.215C>G (p.A72G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450395C>G" "" "pathogenic" ""
"0000341572" "0" "90" "12" "112888198" "112888198" "subst" "0" "02327" "PTPN11_000033" "g.112888198G>T" "" "" "" "PTPN11(NM_002834.3):c.214G>T (p.(Ala72Ser)), PTPN11(NM_002834.5):c.214G>T (p.A72S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450394G>T" "" "pathogenic" ""
"0000341573" "0" "70" "12" "112888199" "112888199" "subst" "0" "02327" "PTPN11_000028" "g.112888199C>T" "" "" "" "PTPN11(NM_002834.5):c.215C>T (p.A72V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450395C>T" "" "likely pathogenic" ""
"0000341969" "0" "30" "12" "112891121" "112891121" "subst" "1.21898E-5" "02327" "PTPN11_000025" "g.112891121G>A" "" "" "" "PTPN11(NM_002834.3):c.455G>A (p.R152H, p.(Arg152His)), PTPN11(NM_002834.5):c.455G>A (p.R152H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112453317G>A" "" "likely benign" ""
"0000342473" "0" "90" "12" "112910785" "112910785" "subst" "3.30472E-5" "02327" "PTPN11_000054" "g.112910785G>A" "" "" "" "PTPN11(NM_001330437.1):c.794G>A (p.(Arg265Gln)), PTPN11(NM_002834.3):c.794G>A (p.R265Q), PTPN11(NM_002834.5):c.794G>A (p.R265Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112472981G>A" "" "pathogenic" ""
"0000342543" "0" "90" "12" "112915466" "112915466" "subst" "0" "02327" "PTPN11_000075" "g.112915466A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112477662A>G" "" "pathogenic" ""
"0000342704" "0" "90" "12" "112915778" "112915778" "subst" "0" "02327" "PTPN11_000079" "g.112915778C>T" "" "" "" "PTPN11(NM_002834.3):c.1051C>T (p.(Arg351Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112477974C>T" "" "pathogenic" ""
"0000343014" "0" "90" "12" "112926873" "112926873" "subst" "0" "02327" "PTPN11_000087" "g.112926873G>T" "" "" "" "PTPN11(NM_002834.3):c.1493G>T (p.R498L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112489069G>T" "" "pathogenic" ""
"0000343015" "0" "90" "12" "112926872" "112926872" "subst" "4.06058E-6" "02327" "PTPN11_000086" "g.112926872C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112489068C>T" "" "pathogenic" ""
"0000343563" "0" "50" "12" "112884093" "112884093" "subst" "8.12473E-6" "02327" "PTPN11_000056" "g.112884093A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112446289A>G" "" "VUS" ""
"0000343700" "0" "90" "12" "112915524" "112915524" "subst" "0" "02327" "PTPN11_000076" "g.112915524A>G" "" "" "" "PTPN11(NM_002834.5):c.923A>G (p.(Asn308Ser), p.N308S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112477720A>G" "" "pathogenic" ""
"0000343793" "0" "90" "12" "112888156" "112888156" "subst" "0" "02327" "PTPN11_000040" "g.112888156A>G" "" "" "" "PTPN11(NM_002834.5):c.172A>G (p.N58D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450352A>G" "" "pathogenic" ""
"0000343794" "0" "90" "12" "112888156" "112888156" "subst" "0" "02327" "PTPN11_000058" "g.112888156A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450352A>C" "" "pathogenic" ""
"0000343795" "0" "90" "12" "112888158" "112888158" "subst" "0" "02327" "PTPN11_000042" "g.112888158C>G" "" "" "" "PTPN11(NM_002834.3):c.174C>G (p.(Asn58Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450354C>G" "" "pathogenic" ""
"0000343796" "0" "90" "12" "112888158" "112888158" "subst" "0" "02327" "PTPN11_000059" "g.112888158C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450354C>A" "" "pathogenic" ""
"0000343872" "0" "90" "12" "112888301" "112888301" "subst" "0" "02327" "PTPN11_000063" "g.112888301A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450497A>C" "" "pathogenic" ""
"0000343919" "0" "70" "12" "112891102" "112891102" "subst" "0" "02327" "PTPN11_000064" "g.112891102G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112453298G>T" "" "likely pathogenic" ""
"0000344155" "0" "90" "12" "112888165" "112888165" "subst" "0" "02327" "PTPN11_000006" "g.112888165G>A" "" "" "" "PTPN11(NM_002834.3):c.181G>A (p.D61N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450361G>A" "" "pathogenic" ""
"0000344156" "0" "90" "12" "112888166" "112888166" "subst" "0" "02327" "PTPN11_000005" "g.112888166A>G" "" "" "" "PTPN11(NM_002834.5):c.182A>G (p.D61G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450362A>G" "" "pathogenic" ""
"0000344428" "0" "50" "12" "112940054" "112940054" "subst" "0" "02327" "PTPN11_000098" "g.112940054G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112502250G>C" "" "VUS" ""
"0000344706" "0" "90" "12" "112910758" "112910758" "subst" "0" "02327" "PTPN11_000065" "g.112910758A>G" "" "" "" "PTPN11(NM_001330437.1):c.767A>G (p.(Gln256Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112472954A>G" "" "pathogenic" ""
"0000344881" "0" "90" "12" "112926909" "112926909" "subst" "4.06058E-6" "02327" "PTPN11_000007" "g.112926909A>G" "" "" "" "PTPN11(NM_002834.3):c.1529A>G (p.Q510R), PTPN11(NM_002834.5):c.1529A>G (p.(Gln510Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112489105A>G" "" "pathogenic" ""
"0000344882" "0" "90" "12" "112926908" "112926908" "subst" "0" "02327" "PTPN11_000094" "g.112926908C>G" "" "" "" "PTPN11(NM_002834.5):c.1528C>G (p.Q510E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112489104C>G" "" "pathogenic" ""
"0000344883" "0" "90" "12" "112926910" "112926910" "subst" "0" "02327" "PTPN11_000096" "g.112926910G>C" "" "" "" "PTPN11(NM_002834.3):c.1530G>C (p.(Gln510His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112489106G>C" "" "pathogenic" ""
"0000344884" "0" "90" "12" "112926909" "112926909" "subst" "0" "02327" "PTPN11_000095" "g.112926909A>C" "" "" "" "PTPN11(NM_002834.3):c.1529A>C (p.Q510P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112489105A>C" "" "pathogenic" ""
"0000344975" "0" "90" "12" "112888220" "112888220" "subst" "0" "02327" "PTPN11_000021" "g.112888220A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450416A>G" "" "pathogenic" ""
"0000345128" "0" "90" "12" "112891083" "112891083" "subst" "0" "02327" "PTPN11_000023" "g.112891083G>C" "" "" "" "PTPN11(NM_002834.5):c.417G>C (p.E139D, p.(Glu139Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112453279G>C" "" "pathogenic" ""
"0000345129" "0" "90" "12" "112891083" "112891083" "subst" "0" "02327" "PTPN11_000024" "g.112891083G>T" "" "" "" "PTPN11(NM_002834.3):c.417G>T (p.(Glu139Asp)), PTPN11(NM_002834.5):c.417G>T (p.E139D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112453279G>T" "" "pathogenic" ""
"0000345521" "0" "90" "12" "112888189" "112888189" "subst" "0" "02327" "PTPN11_000037" "g.112888189G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450385G>C" "" "pathogenic" ""
"0000345542" "0" "90" "12" "112888212" "112888212" "subst" "0" "02327" "PTPN11_000019" "g.112888212G>C" "" "" "" "PTPN11(NM_002834.3):c.228G>C (p.(Glu76Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450408G>C" "" "pathogenic" ""
"0000345543" "0" "90" "12" "112888212" "112888212" "subst" "0" "02327" "PTPN11_000020" "g.112888212G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450408G>T" "" "pathogenic" ""
"0000345544" "0" "90" "12" "112888211" "112888211" "subst" "0" "02327" "PTPN11_000017" "g.112888211A>T" "" "" "" "PTPN11(NM_002834.5):c.227A>T (p.E76V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450407A>T" "" "pathogenic" ""
"0000345932" "0" "90" "12" "112910793" "112910793" "subst" "4.13237E-6" "02327" "PTPN11_000067" "g.112910793G>T" "" "" "" "PTPN11(NM_002834.5):c.802G>T (p.(Gly268Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112472989G>T" "" "pathogenic" ""
"0000346119" "0" "90" "12" "112926887" "112926887" "subst" "0" "02327" "PTPN11_000008" "g.112926887G>A" "" "" "" "PTPN11(NM_002834.3):c.1507G>A (p.(Gly503Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112489083G>A" "" "pathogenic" ""
"0000346120" "0" "90" "12" "112926887" "112926887" "subst" "4.06058E-6" "02327" "PTPN11_000090" "g.112926887G>C" "" "" "" "PTPN11(NM_002834.3):c.1507G>C (p.G503R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112489083G>C" "" "pathogenic" ""
"0000346122" "0" "90" "12" "112926888" "112926888" "subst" "0" "02327" "PTPN11_000091" "g.112926888G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112489084G>A" "" "pathogenic" ""
"0000346123" "0" "90" "12" "112926888" "112926888" "subst" "0" "02327" "PTPN11_000092" "g.112926888G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112489084G>T" "" "pathogenic" ""
"0000346187" "0" "90" "12" "112888163" "112888163" "subst" "0" "02327" "PTPN11_000045" "g.112888163G>C" "" "" "" "PTPN11(NM_002834.3):c.179G>C (p.G60A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450359G>C" "" "pathogenic" ""
"0000346188" "0" "70" "12" "112888162" "112888162" "subst" "0" "02327" "PTPN11_000060" "g.112888162G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450358G>A" "" "likely pathogenic" ""
"0000346663" "0" "90" "12" "112910837" "112910837" "subst" "0" "02327" "PTPN11_000070" "g.112910837C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112473033C>G" "" "pathogenic" ""
"0000346664" "0" "90" "12" "112910835" "112910835" "subst" "0" "02327" "PTPN11_000069" "g.112910835A>G" "" "" "" "PTPN11(NM_002834.3):c.844A>G (p.(Ile282Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112473031A>G" "" "pathogenic" ""
"0000346677" "0" "50" "12" "112915526" "112915526" "subst" "0.000503639" "02327" "PTPN11_000077" "g.112915526A>G" "" "" "" "PTPN11(NM_002834.5):c.925A>G (p.I309V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112477722A>G" "" "VUS" ""
"0000347047" "0" "90" "12" "112910772" "112910772" "subst" "0" "02327" "PTPN11_000066" "g.112910772C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112472968C>T" "" "pathogenic" ""
"0000347226" "0" "30" "12" "112940026" "112940026" "subst" "4.06745E-5" "02327" "PTPN11_000097" "g.112940026C>T" "" "" "" "PTPN11(NM_001330437.1):c.1690C>T (p.(Leu564Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112502222C>T" "" "likely benign" ""
"0000348013" "0" "90" "12" "112910844" "112910844" "subst" "0" "02327" "PTPN11_000071" "g.112910844T>C" "" "" "" "PTPN11(NM_002834.3):c.853T>C (p.(Phe285Leu)), PTPN11(NM_002834.5):c.853T>C (p.F285L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112473040T>C" "" "pathogenic" ""
"0000348014" "0" "90" "12" "112915456" "112915456" "subst" "0" "02327" "PTPN11_000074" "g.112915456T>G" "" "" "" "PTPN11(NM_002834.3):c.855T>G (p.F285L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112477652T>G" "" "pathogenic" ""
"0000348092" "0" "90" "12" "112888195" "112888195" "subst" "0" "02327" "PTPN11_000038" "g.112888195T>C" "" "" "" "PTPN11(NM_002834.3):c.211T>C (p.(Phe71Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450391T>C" "" "pathogenic" ""
"0000348093" "0" "70" "12" "112888197" "112888197" "subst" "0" "02327" "PTPN11_000061" "g.112888197T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450393T>G" "" "likely pathogenic" ""
"0000348473" "0" "90" "12" "112926851" "112926851" "subst" "4.06075E-6" "02327" "PTPN11_000083" "g.112926851C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112489047C>T" "" "pathogenic" ""
"0000348474" "0" "90" "12" "112926851" "112926851" "subst" "0" "02327" "PTPN11_000084" "g.112926851C>A" "" "" "" "PTPN11(NM_002834.3):c.1471C>A (p.P491T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112489047C>A" "" "pathogenic" ""
"0000349059" "0" "90" "12" "112926884" "112926884" "subst" "0" "02327" "PTPN11_000002" "g.112926884T>G" "" "" "" "PTPN11(NM_002834.5):c.1504T>G (p.S502A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112489080T>G" "" "pathogenic" ""
"0000349060" "0" "90" "12" "112926885" "112926885" "subst" "0" "02327" "PTPN11_000089" "g.112926885C>T" "" "" "" "PTPN11(NM_002834.5):c.1505C>T (p.S502L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112489081C>T" "" "pathogenic" ""
"0000349061" "0" "90" "12" "112926884" "112926884" "subst" "0" "02327" "PTPN11_000088" "g.112926884T>A" "" "" "" "PTPN11(NM_002834.5):c.1504T>A (p.S502T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112489080T>A" "" "pathogenic" ""
"0000349511" "0" "90" "12" "112884189" "112884189" "subst" "0" "02327" "PTPN11_000046" "g.112884189A>G" "" "" "" "PTPN11(NM_002834.5):c.124A>G (p.(Thr42Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112446385A>G" "" "pathogenic" ""
"0000349528" "0" "90" "12" "112926270" "112926270" "subst" "4.06554E-6" "02327" "PTPN11_000082" "g.112926270C>T" "" "" "" "PTPN11(NM_001330437.1):c.1415C>T (p.(Thr472Met)), PTPN11(NM_002834.3):c.1403C>T (p.T468M), PTPN11(NM_002834.5):c.1403C>T (p.T468M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112488466C>T" "" "pathogenic" ""
"0000349554" "0" "30" "12" "112888140" "112888140" "subst" "8.13935E-6" "02327" "PTPN11_000057" "g.112888140C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450336C>T" "" "likely benign" ""
"0000349619" "0" "90" "12" "112888202" "112888202" "subst" "0" "02327" "PTPN11_000030" "g.112888202C>T" "" "" "" "PTPN11(NM_002834.3):c.218C>T (p.(Thr73Ile)), PTPN11(NM_002834.5):c.218C>T (p.T73I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450398C>T" "" "pathogenic" ""
"0000350022" "0" "90" "12" "112910827" "112910827" "subst" "0" "02327" "PTPN11_000068" "g.112910827A>G" "" "" "" "PTPN11(NM_002834.3):c.836A>G (p.(Tyr279Cys)), PTPN11(NM_002834.5):c.836A>G (p.Y279C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112473023A>G" "" "pathogenic" ""
"0000350156" "0" "90" "12" "112888168" "112888168" "subst" "0" "02327" "PTPN11_000009" "g.112888168T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450364T>G" "" "pathogenic" ""
"0000350161" "0" "90" "12" "112888172" "112888172" "subst" "8.13749E-6" "02327" "PTPN11_000004" "g.112888172A>G" "" "" "" "PTPN11(NM_002834.3):c.188A>G (p.Y63C), PTPN11(NM_002834.5):c.188A>G (p.Y63C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112450368A>G" "" "pathogenic" ""
"0000350846" "0" "10" "12" "112891203" "112891203" "subst" "0.00994303" "02327" "PTPN11_000050" "g.112891203G>C" "" "" "" "PTPN11(NM_001330437.1):c.525+12G>C (p.(=)), PTPN11(NM_002834.3):c.525+12G>C, PTPN11(NM_002834.5):c.525+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112453399G>C" "" "benign" ""
"0000350847" "0" "30" "12" "112910862" "112910862" "subst" "0" "02327" "PTPN11_000073" "g.112910862G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112473058G>C" "" "likely benign" ""
"0000408760" "0" "90" "12" "112888166" "112888166" "subst" "0" "00006" "PTPN11_000005" "g.112888166A>G" "" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "De novo" "" "" "0" "" "" "g.112450362A>G" "" "pathogenic (dominant)" ""
"0000546641" "0" "50" "12" "112884090" "112884090" "subst" "0" "01804" "PTPN11_000101" "g.112884090C>T" "" "" "" "PTPN11(NM_002834.3):c.25C>T (p.(Pro9Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112446286C>T" "" "VUS" ""
"0000546642" "0" "70" "12" "112888198" "112888198" "subst" "0" "02327" "PTPN11_000032" "g.112888198G>A" "" "" "" "PTPN11(NM_002834.3):c.214G>A (p.A72T), PTPN11(NM_002834.5):c.214G>A (p.A72T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112450394G>A" "" "likely pathogenic" ""
"0000546643" "0" "90" "12" "112888198" "112888198" "subst" "0" "01804" "PTPN11_000033" "g.112888198G>T" "" "" "" "PTPN11(NM_002834.3):c.214G>T (p.(Ala72Ser)), PTPN11(NM_002834.5):c.214G>T (p.A72S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112450394G>T" "" "pathogenic" ""
"0000546644" "0" "90" "12" "112888211" "112888211" "subst" "0" "02325" "PTPN11_000017" "g.112888211A>T" "" "" "" "PTPN11(NM_002834.5):c.227A>T (p.E76V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112450407A>T" "" "pathogenic" ""
"0000546645" "0" "30" "12" "112888239" "112888239" "subst" "0.00561327" "02327" "PTPN11_000049" "g.112888239C>T" "" "" "" "PTPN11(NM_001330437.1):c.255C>T (p.(His85=)), PTPN11(NM_002834.5):c.255C>T (p.H85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112450435C>T" "" "likely benign" ""
"0000546646" "0" "90" "12" "112888312" "112888312" "subst" "0" "02327" "PTPN11_000102" "g.112888312G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112450508G>A" "" "pathogenic" ""
"0000546647" "0" "50" "12" "112891014" "112891014" "subst" "4.06656E-6" "02327" "PTPN11_000103" "g.112891014T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112453210T>G" "" "VUS" ""
"0000546648" "0" "50" "12" "112891121" "112891121" "subst" "1.21898E-5" "01943" "PTPN11_000025" "g.112891121G>A" "" "" "" "PTPN11(NM_002834.3):c.455G>A (p.R152H, p.(Arg152His)), PTPN11(NM_002834.5):c.455G>A (p.R152H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112453317G>A" "" "VUS" ""
"0000546649" "0" "30" "12" "112892360" "112892360" "subst" "0.000655324" "01943" "PTPN11_000051" "g.112892360C>A" "" "" "" "PTPN11(NM_001330437.1):c.526-8C>A (p.(=)), PTPN11(NM_002834.3):c.526-8C>A, PTPN11(NM_002834.5):c.526-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112454556C>A" "" "likely benign" ""
"0000546650" "0" "30" "12" "112892400" "112892400" "subst" "0.000492178" "01943" "PTPN11_000104" "g.112892400G>T" "" "" "" "PTPN11(NM_001330437.1):c.558G>T (p.(Arg186=)), PTPN11(NM_002834.3):c.558G>T (p.R186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112454596G>T" "" "likely benign" ""
"0000546651" "0" "30" "12" "112892433" "112892433" "subst" "0" "02326" "PTPN11_000105" "g.112892433T>G" "" "" "" "PTPN11(NM_002834.3):c.591T>G (p.Y197*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112454629T>G" "" "likely benign" ""
"0000546652" "0" "30" "12" "112915526" "112915526" "subst" "0.000503639" "02330" "PTPN11_000077" "g.112915526A>G" "" "" "" "PTPN11(NM_002834.5):c.925A>G (p.I309V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112477722A>G" "" "likely benign" ""
"0000546653" "0" "70" "12" "112915766" "112915766" "subst" "0" "01804" "PTPN11_000106" "g.112915766C>A" "" "" "" "PTPN11(NM_002834.3):c.1039C>A (p.(Gln347Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112477962C>A" "" "likely pathogenic" ""
"0000546654" "0" "30" "12" "112919866" "112919866" "subst" "0" "02327" "PTPN11_000107" "g.112919866G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112482062G>T" "" "likely benign" ""
"0000546655" "0" "30" "12" "112919871" "112919871" "subst" "0" "01804" "PTPN11_000108" "g.112919871C>T" "" "" "" "PTPN11(NM_002834.3):c.1093-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112482067C>T" "" "likely benign" ""
"0000546656" "0" "50" "12" "112924274" "112924274" "subst" "0" "01943" "PTPN11_000109" "g.112924274T>C" "" "" "" "PTPN11(NM_001330437.1):c.1232T>C (p.L411P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112486470T>C" "" "VUS" ""
"0000546657" "0" "30" "12" "112924344" "112924344" "subst" "4.06345E-6" "01943" "PTPN11_000110" "g.112924344C>T" "" "" "" "PTPN11(NM_002834.3):c.1290C>T (p.S430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112486540C>T" "" "likely benign" ""
"0000546658" "0" "90" "12" "112926885" "112926885" "subst" "0" "02325" "PTPN11_000089" "g.112926885C>T" "" "" "" "PTPN11(NM_002834.5):c.1505C>T (p.S502L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112489081C>T" "" "pathogenic" ""
"0000546659" "0" "90" "12" "112926890" "112926890" "subst" "4.06065E-6" "02325" "PTPN11_000001" "g.112926890A>G" "" "" "" "PTPN11(NM_002834.3):c.1510A>G (p.(Met504Val)), PTPN11(NM_002834.5):c.1510A>G (p.M504V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112489086A>G" "" "pathogenic" ""
"0000546660" "0" "30" "12" "112939961" "112939961" "subst" "0" "01943" "PTPN11_000111" "g.112939961A>G" "" "" "" "PTPN11(NM_002834.3):c.1613A>G (p.K538R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112502157A>G" "" "likely benign" ""
"0000546661" "0" "30" "12" "112940006" "112940006" "subst" "0.000455629" "01804" "PTPN11_000112" "g.112940006C>T" "" "" "" "PTPN11(NM_001330437.2):c.1670C>T (p.T557M), PTPN11(NM_002834.3):c.1658C>T (p.T553M, p.(Thr553Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112502202C>T" "" "likely benign" ""
"0000546662" "0" "30" "12" "112940006" "112940006" "subst" "0.000455629" "02327" "PTPN11_000112" "g.112940006C>T" "" "" "" "PTPN11(NM_001330437.2):c.1670C>T (p.T557M), PTPN11(NM_002834.3):c.1658C>T (p.T553M, p.(Thr553Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112502202C>T" "" "likely benign" ""
"0000546663" "0" "50" "12" "112940038" "112940038" "subst" "1.62685E-5" "02330" "PTPN11_000113" "g.112940038A>T" "" "" "" "PTPN11(NM_002834.5):c.1690A>T (p.T564S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112502234A>T" "" "VUS" ""
"0000546664" "0" "30" "12" "112942581" "112942581" "subst" "0.000342706" "02330" "PTPN11_000114" "g.112942581A>G" "" "" "" "PTPN11(NM_002834.5):c.*13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112504777A>G" "" "likely benign" ""
"0000546665" "0" "30" "12" "112942597" "112942597" "subst" "0" "02327" "PTPN11_000115" "g.112942597A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112504793A>G" "" "likely benign" ""
"0000597248" "0" "70" "12" "112926852" "112926853" "delins" "0" "01807" "PTPN11_000116" "g.112926852_112926853delinsAT" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.112489048_112489049delinsAT" "" "likely pathogenic" ""
"0000604339" "0" "90" "12" "112888301" "112888301" "subst" "0" "01164" "PTPN11_000063" "g.112888301A>C" "" "" "" "" "ACMG grading: PS3,PM1,PM2,PM6\r\nconfirmed de novo after segregation analysis" "Germline" "" "rs397507517" "0" "" "" "g.112450497A>C" "" "pathogenic" "ACMG"
"0000613869" "0" "90" "12" "112888165" "112888165" "subst" "0" "02327" "PTPN11_000117" "g.112888165G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112450361G>C" "" "pathogenic" ""
"0000613870" "0" "90" "12" "112888195" "112888195" "subst" "0" "01804" "PTPN11_000038" "g.112888195T>C" "" "" "" "PTPN11(NM_002834.3):c.211T>C (p.(Phe71Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112450391T>C" "" "pathogenic" ""
"0000613871" "0" "90" "12" "112891083" "112891083" "subst" "0" "02330" "PTPN11_000023" "g.112891083G>C" "" "" "" "PTPN11(NM_002834.5):c.417G>C (p.E139D, p.(Glu139Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112453279G>C" "" "pathogenic" ""
"0000613872" "0" "70" "12" "112910765" "112910765" "subst" "0" "02327" "PTPN11_000118" "g.112910765G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112472961G>C" "" "likely pathogenic" ""
"0000613873" "0" "50" "12" "112910765" "112910765" "subst" "0" "02327" "PTPN11_000119" "g.112910765G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112472961G>T" "" "VUS" ""
"0000613874" "0" "90" "12" "112910785" "112910785" "subst" "3.30472E-5" "02326" "PTPN11_000054" "g.112910785G>A" "" "" "" "PTPN11(NM_001330437.1):c.794G>A (p.(Arg265Gln)), PTPN11(NM_002834.3):c.794G>A (p.R265Q), PTPN11(NM_002834.5):c.794G>A (p.R265Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112472981G>A" "" "pathogenic" ""
"0000613875" "0" "90" "12" "112915455" "112915455" "subst" "0" "02327" "PTPN11_000026" "g.112915455T>C" "" "" "" "PTPN11(NM_002834.3):c.854T>C (p.(Phe285Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112477651T>C" "" "pathogenic" ""
"0000613876" "0" "70" "12" "112924336" "112924336" "subst" "4.06316E-6" "02325" "PTPN11_000120" "g.112924336G>A" "" "" "" "PTPN11(NM_002834.3):c.1282G>A (p.(Val428Met)), PTPN11(NM_002834.5):c.1282G>A (p.V428M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112486532G>A" "" "likely pathogenic" ""
"0000613877" "0" "90" "12" "112926270" "112926270" "subst" "4.06554E-6" "01943" "PTPN11_000082" "g.112926270C>T" "" "" "" "PTPN11(NM_001330437.1):c.1415C>T (p.(Thr472Met)), PTPN11(NM_002834.3):c.1403C>T (p.T468M), PTPN11(NM_002834.5):c.1403C>T (p.T468M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112488466C>T" "" "pathogenic" ""
"0000622789" "0" "90" "12" "112926873" "112926873" "subst" "0" "01943" "PTPN11_000087" "g.112926873G>T" "" "" "" "PTPN11(NM_002834.3):c.1493G>T (p.R498L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112489069G>T" "" "pathogenic" ""
"0000626225" "0" "70" "12" "112893832" "112893835" "del" "0" "02515" "PTPN11_000121" "g.112893832_112893835del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.112456028_112456031del" "" "pathogenic (dominant)" ""
"0000648458" "1" "70" "12" "112888219" "112888219" "subst" "0" "03575" "PTPN11_000122" "g.112888219C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397516803}" "Germline" "" "rs397516803" "0" "" "" "g.112450415C>A" "" "likely pathogenic" ""
"0000648459" "1" "90" "12" "112888220" "112888220" "subst" "0" "03575" "PTPN11_000021" "g.112888220A>G" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs121918466}" "Germline" "" "rs121918466" "0" "" "" "g.112450416A>G" "" "pathogenic" ""
"0000648460" "1" "70" "12" "112888312" "112888312" "subst" "0" "03575" "PTPN11_000102" "g.112888312G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397507518}" "Germline" "" "rs397507518" "0" "" "" "g.112450508G>A" "" "likely pathogenic" ""
"0000648461" "1" "50" "12" "112891121" "112891121" "subst" "1.21898E-5" "03575" "PTPN11_000025" "g.112891121G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397507521}" "Germline" "" "rs397507521" "0" "" "" "g.112453317G>A" "" "VUS" ""
"0000648462" "1" "30" "12" "112893414" "112893414" "subst" "0" "03575" "PTPN11_000123" "g.112893414T>C" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs11066313}" "Germline" "" "rs11066313" "0" "" "" "g.112455610T>C" "" "likely benign" ""
"0000648463" "1" "30" "12" "112915232" "112915232" "subst" "0" "03575" "PTPN11_000124" "g.112915232C>T" "39/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "39 heterozygous, no homozygous; {DB:CLININrs73209632}" "Germline" "" "rs73209632" "0" "" "" "g.112477428C>T" "" "likely benign" ""
"0000656990" "0" "90" "12" "112856920" "112856920" "subst" "0" "02327" "PTPN11_000125" "g.112856920C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112419116C>T" "" "pathogenic" ""
"0000656991" "0" "30" "12" "112884113" "112884113" "subst" "0.000276176" "01943" "PTPN11_000126" "g.112884113A>G" "" "" "" "PTPN11(NM_002834.3):c.48A>G (p.A16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112446309A>G" "" "likely benign" ""
"0000656992" "0" "90" "12" "112888150" "112888150" "subst" "0" "02326" "PTPN11_000013" "g.112888150A>G" "" "" "" "PTPN11(NM_002834.3):c.166A>G (p.(Ile56Val), p.I56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112450346A>G" "" "pathogenic" ""
"0000656993" "0" "50" "12" "112888157" "112888157" "subst" "3.66211E-5" "02326" "PTPN11_000127" "g.112888157A>G" "" "" "" "PTPN11(NM_002834.3):c.173A>G (p.N58S), PTPN11(NM_002834.5):c.173A>G (p.N58S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112450353A>G" "" "VUS" ""
"0000656994" "0" "90" "12" "112888202" "112888202" "subst" "0" "02325" "PTPN11_000030" "g.112888202C>T" "" "" "" "PTPN11(NM_002834.3):c.218C>T (p.(Thr73Ile)), PTPN11(NM_002834.5):c.218C>T (p.T73I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112450398C>T" "" "pathogenic" ""
"0000656995" "0" "30" "12" "112891183" "112891183" "subst" "8.12532E-6" "02326" "PTPN11_000128" "g.112891183C>T" "" "" "" "PTPN11(NM_002834.3):c.517C>T (p.R173C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112453379C>T" "" "likely benign" ""
"0000656996" "0" "30" "12" "112892379" "112892379" "subst" "1.62768E-5" "01804" "PTPN11_000129" "g.112892379C>T" "" "" "" "PTPN11(NM_002834.3):c.537C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112454575C>T" "" "likely benign" ""
"0000656997" "0" "50" "12" "112910801" "112910801" "subst" "0" "01804" "PTPN11_000130" "g.112910801G>T" "" "" "" "PTPN11(NM_002834.3):c.810G>T (p.(Arg270Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112472997G>T" "" "VUS" ""
"0000656998" "0" "30" "12" "112920006" "112920006" "subst" "0.000190894" "02326" "PTPN11_000131" "g.112920006A>G" "" "" "" "PTPN11(NM_002834.3):c.1221A>G (p.G407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112482202A>G" "" "likely benign" ""
"0000656999" "0" "50" "12" "112924286" "112924286" "subst" "1.22063E-5" "02327" "PTPN11_000132" "g.112924286C>T" "" "" "" "PTPN11(NM_002834.5):c.1232C>T (p.T411M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112486482C>T" "" "VUS" ""
"0000657000" "0" "70" "12" "112926908" "112926908" "subst" "0" "02327" "PTPN11_000133" "g.112926908C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112489104C>A" "" "likely pathogenic" ""
"0000657001" "0" "90" "12" "112926909" "112926909" "subst" "0" "02326" "PTPN11_000095" "g.112926909A>C" "" "" "" "PTPN11(NM_002834.3):c.1529A>C (p.Q510P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112489105A>C" "" "pathogenic" ""
"0000673989" "0" "90" "12" "112926897" "112926897" "subst" "0" "03695" "PTPN11_000134" "g.112926897A>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.112489093A>C" "" "pathogenic" ""
"0000675220" "0" "70" "12" "112910845" "112910845" "subst" "0" "03753" "PTPN11_000135" "g.112910845G>A" "0.032" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000679402" "0" "90" "12" "112888165" "112888165" "subst" "0" "01943" "PTPN11_000006" "g.112888165G>A" "" "" "" "PTPN11(NM_002834.3):c.181G>A (p.D61N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000679403" "0" "90" "12" "112888172" "112888172" "subst" "8.13749E-6" "02326" "PTPN11_000004" "g.112888172A>G" "" "" "" "PTPN11(NM_002834.3):c.188A>G (p.Y63C), PTPN11(NM_002834.5):c.188A>G (p.Y63C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000679404" "0" "90" "12" "112888198" "112888198" "subst" "0" "01943" "PTPN11_000032" "g.112888198G>A" "" "" "" "PTPN11(NM_002834.3):c.214G>A (p.A72T), PTPN11(NM_002834.5):c.214G>A (p.A72T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000679405" "0" "30" "12" "112892360" "112892360" "subst" "0.000655324" "02327" "PTPN11_000051" "g.112892360C>A" "" "" "" "PTPN11(NM_001330437.1):c.526-8C>A (p.(=)), PTPN11(NM_002834.3):c.526-8C>A, PTPN11(NM_002834.5):c.526-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000679406" "0" "90" "12" "112915524" "112915524" "subst" "0" "02325" "PTPN11_000076" "g.112915524A>G" "" "" "" "PTPN11(NM_002834.5):c.923A>G (p.(Asn308Ser), p.N308S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000691247" "0" "30" "12" "112891152" "112891152" "subst" "7.72E-5" "01943" "PTPN11_000136" "g.112891152C>T" "" "" "" "PTPN11(NM_001330437.1):c.486C>T (p.(Asp162=)), PTPN11(NM_002834.3):c.486C>T (p.D162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000691248" "0" "50" "12" "112892398" "112892398" "subst" "6.91529E-5" "01943" "PTPN11_000137" "g.112892398C>T" "" "" "" "PTPN11(NM_001330437.1):c.556C>T (p.(Arg186Trp)), PTPN11(NM_002834.3):c.556C>T (p.R186W), PTPN11(NM_002834.5):c.556C>T (p.R186W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000691249" "0" "90" "12" "112910793" "112910793" "subst" "0" "02327" "PTPN11_000003" "g.112910793G>A" "" "" "" "PTPN11(NM_002834.3):c.802G>A (p.G268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000691250" "0" "90" "12" "112926270" "112926270" "subst" "4.06554E-6" "02325" "PTPN11_000082" "g.112926270C>T" "" "" "" "PTPN11(NM_001330437.1):c.1415C>T (p.(Thr472Met)), PTPN11(NM_002834.3):c.1403C>T (p.T468M), PTPN11(NM_002834.5):c.1403C>T (p.T468M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000691251" "0" "90" "12" "112926852" "112926852" "subst" "0" "02327" "PTPN11_000138" "g.112926852C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000691252" "0" "30" "12" "112926983" "112926983" "subst" "0" "02325" "PTPN11_000139" "g.112926983C>T" "" "" "" "PTPN11(NM_002834.5):c.1599+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000694773" "0" "90" "12" "112910827" "112910827" "subst" "0" "00006" "PTPN11_000068" "g.112910827A>G" "" "{PMID:White 2018:29276006}" "" "" "" "Germline" "" "" "0" "" "" "g.112473023A>G" "" "pathogenic (dominant)" ""
"0000712176" "0" "90" "12" "112915523" "112915523" "subst" "1.21851E-5" "03611" "PTPN11_000047" "g.112915523A>G" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PS2_VS, PS3, PM5, PP1_S, PP3" "De novo" "" "" "0" "" "" "g.112477719A>G" "" "pathogenic (dominant)" "ACMG"
"0000712177" "0" "70" "12" "112926890" "112926890" "subst" "4.06065E-6" "03611" "PTPN11_000001" "g.112926890A>G" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PS2, PS3_M, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.112489086A>G" "" "likely pathogenic (dominant)" "ACMG"
"0000723838" "0" "70" "12" "112888219" "112888219" "subst" "0" "01943" "PTPN11_000122" "g.112888219C>A" "" "" "" "PTPN11(NM_002834.3):c.235C>A (p.Q79K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000723839" "0" "30" "12" "112892382" "112892382" "subst" "0" "01943" "PTPN11_000141" "g.112892382C>T" "" "" "" "PTPN11(NM_001330437.1):c.540C>T (p.(Asp180=)), PTPN11(NM_002834.3):c.540C>T (p.D180=), PTPN11(NM_002834.5):c.540C>T (p.D180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000723840" "0" "90" "12" "112910827" "112910827" "subst" "0" "01804" "PTPN11_000068" "g.112910827A>G" "" "" "" "PTPN11(NM_002834.3):c.836A>G (p.(Tyr279Cys)), PTPN11(NM_002834.5):c.836A>G (p.Y279C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000723841" "0" "90" "12" "112926882" "112926882" "subst" "0" "02325" "PTPN11_000142" "g.112926882G>A" "" "" "" "PTPN11(NM_002834.5):c.1502G>A (p.R501K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000723842" "0" "90" "12" "112926887" "112926887" "subst" "4.06058E-6" "01943" "PTPN11_000090" "g.112926887G>C" "" "" "" "PTPN11(NM_002834.3):c.1507G>C (p.G503R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000723843" "0" "30" "12" "112940006" "112940006" "subst" "0.000455629" "01943" "PTPN11_000112" "g.112940006C>T" "" "" "" "PTPN11(NM_001330437.2):c.1670C>T (p.T557M), PTPN11(NM_002834.3):c.1658C>T (p.T553M, p.(Thr553Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000730051" "0" "90" "12" "112926890" "112926890" "subst" "4.06065E-6" "00000" "PTPN11_000001" "g.112926890A>G" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_002834.3:c.1510A>G:p.(Met504Val)" "" "De novo" "" "" "0" "" "" "g.112489086A>G" "" "pathogenic (dominant)" ""
"0000792409" "0" "50" "12" "112924280" "112924280" "subst" "6.51381E-5" "01164" "PTPN11_000143" "g.112924280G>C" "" "PMID: 17052965, 21548061, 24451042, 28166811" "" "" "" "Germline" "?" "" "" "" "" "" "VCV000044596.4" "VUS" "ACMG"
"0000795657" "0" "70" "12" "112891083" "112891083" "subst" "0" "00000" "PTPN11_000023" "g.112891083G>C" "" "{PMID:Nair 2018:30293248}" "" "NM_002834.3:c.417G>C; p.Glu139Asp" "" "Unknown" "?" "rs397507520" "0" "" "" "g.112453279G>C" "" "likely pathogenic" ""
"0000805534" "0" "50" "12" "112924336" "112924336" "subst" "4.06316E-6" "01804" "PTPN11_000120" "g.112924336G>A" "" "" "" "PTPN11(NM_002834.3):c.1282G>A (p.(Val428Met)), PTPN11(NM_002834.5):c.1282G>A (p.V428M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805535" "0" "90" "12" "112926851" "112926851" "subst" "0" "01943" "PTPN11_000084" "g.112926851C>A" "" "" "" "PTPN11(NM_002834.3):c.1471C>A (p.P491T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000805536" "0" "30" "12" "112940026" "112940026" "subst" "4.06745E-5" "01804" "PTPN11_000097" "g.112940026C>T" "" "" "" "PTPN11(NM_001330437.1):c.1690C>T (p.(Leu564Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000829419" "0" "90" "12" "112910844" "112910844" "subst" "0" "01164" "PTPN11_000071" "g.112910844T>C" "" "PMID: 11992261, 23771920, 15689434, 15996221, 17339163, 18470943, 18678287" "" "" "ACMG: PS2, PS4, PM5, PM2_SUP, PP3" "Germline" "?" "rs397507531" "" "" "" "" "VCV000040528.14" "pathogenic (dominant)" "ACMG"
"0000837045" "0" "70" "12" "112926887" "112926887" "subst" "4.06058E-6" "02494" "PTPN11_000090" "g.112926887G>C" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000853268" "0" "50" "12" "112884094" "112884094" "subst" "8.1248E-6" "02327" "PTPN11_000144" "g.112884094A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000853269" "0" "50" "12" "112888208" "112888208" "subst" "0" "02327" "PTPN11_000145" "g.112888208C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000853270" "0" "50" "12" "112891061" "112891061" "subst" "0" "02325" "PTPN11_000147" "g.112891061A>G" "" "" "" "PTPN11(NM_002834.5):c.395A>G (p.H132R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000853271" "0" "30" "12" "112892382" "112892382" "subst" "0" "02327" "PTPN11_000141" "g.112892382C>T" "" "" "" "PTPN11(NM_001330437.1):c.540C>T (p.(Asp180=)), PTPN11(NM_002834.3):c.540C>T (p.D180=), PTPN11(NM_002834.5):c.540C>T (p.D180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853272" "0" "30" "12" "112893878" "112893878" "subst" "0" "02326" "PTPN11_000148" "g.112893878A>G" "" "" "" "PTPN11(NM_002834.3):c.756+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853273" "0" "90" "12" "112910793" "112910793" "subst" "0" "01943" "PTPN11_000003" "g.112910793G>A" "" "" "" "PTPN11(NM_002834.3):c.802G>A (p.G268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000853274" "0" "50" "12" "112915461" "112915461" "subst" "0" "02327" "PTPN11_000149" "g.112915461A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000853275" "0" "90" "12" "112915523" "112915523" "subst" "1.21851E-5" "01943" "PTPN11_000047" "g.112915523A>G" "" "" "" "PTPN11(NM_002834.3):c.922A>G (p.N308D, p.(Asn308Asp)), PTPN11(NM_002834.5):c.922A>G (p.N308D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000853276" "0" "90" "12" "112926882" "112926882" "subst" "0" "02327" "PTPN11_000142" "g.112926882G>A" "" "" "" "PTPN11(NM_002834.5):c.1502G>A (p.R501K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000853277" "0" "90" "12" "112926882" "112926882" "subst" "0" "02329" "PTPN11_000142" "g.112926882G>A" "" "" "" "PTPN11(NM_002834.5):c.1502G>A (p.R501K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000862806" "0" "50" "12" "112888157" "112888157" "subst" "3.66211E-5" "02325" "PTPN11_000127" "g.112888157A>G" "" "" "" "PTPN11(NM_002834.3):c.173A>G (p.N58S), PTPN11(NM_002834.5):c.173A>G (p.N58S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000862807" "0" "90" "12" "112888166" "112888166" "subst" "0" "02329" "PTPN11_000005" "g.112888166A>G" "" "" "" "PTPN11(NM_002834.5):c.182A>G (p.D61G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000862808" "0" "30" "12" "112888323" "112888323" "subst" "0" "01943" "PTPN11_000146" "g.112888323A>T" "" "" "" "PTPN11(NM_002834.3):c.332+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000862809" "0" "90" "12" "112910835" "112910835" "subst" "0" "01804" "PTPN11_000069" "g.112910835A>G" "" "" "" "PTPN11(NM_002834.3):c.844A>G (p.(Ile282Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000862810" "0" "90" "12" "112915455" "112915455" "subst" "0" "01804" "PTPN11_000026" "g.112915455T>C" "" "" "" "PTPN11(NM_002834.3):c.854T>C (p.(Phe285Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000862811" "0" "90" "12" "112915523" "112915523" "subst" "1.21851E-5" "01804" "PTPN11_000047" "g.112915523A>G" "" "" "" "PTPN11(NM_002834.3):c.922A>G (p.N308D, p.(Asn308Asp)), PTPN11(NM_002834.5):c.922A>G (p.N308D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000862812" "0" "70" "12" "112926249" "112926249" "subst" "0" "02327" "PTPN11_000150" "g.112926249C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000862813" "0" "90" "12" "112926852" "112926852" "subst" "0" "01804" "PTPN11_000085" "g.112926852C>T" "" "" "" "PTPN11(NM_002834.3):c.1472C>T (p.(Pro491Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000862814" "0" "90" "12" "112926910" "112926910" "subst" "0" "01804" "PTPN11_000096" "g.112926910G>C" "" "" "" "PTPN11(NM_002834.3):c.1530G>C (p.(Gln510His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000868878" "0" "90" "12" "112926897" "112926897" "subst" "0" "04322" "PTPN11_000134" "g.112926897A>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" ""
"0000868879" "0" "90" "12" "112888166" "112888166" "subst" "0" "04322" "PTPN11_000005" "g.112888166A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" ""
"0000869772" "0" "90" "12" "112915523" "112915523" "subst" "1.21851E-5" "03779" "PTPN11_000047" "g.112915523A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs28933386" "0" "" "" "" "" "pathogenic" ""
"0000870596" "0" "90" "12" "112888172" "112888172" "subst" "8.13749E-6" "03779" "PTPN11_000004" "g.112888172A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs121918459" "0" "" "" "" "" "pathogenic" ""
"0000872936" "0" "90" "12" "112856920" "112856920" "subst" "0" "03779" "PTPN11_000125" "g.112856920C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs267606990" "0" "" "" "" "" "pathogenic" ""
"0000874694" "0" "70" "12" "112926887" "112926887" "subst" "0" "00000" "PTPN11_000008" "g.112926887G>A" "frequency in 1500 in-house samples: 0" "{PMID:Alfares 2018:30202406}" "" "PTPN11, NM_001330437.1, c.1519G>A,p.Gly507Arg" "different transcript, NM_001330437.1, c.1519G>A; heterozygous" "Unknown" "?" "" "0" "" "" "g.112489083G>A" "" "likely pathogenic" "ACMG"
"0000881193" "0" "90" "12" "112915523" "112915523" "subst" "1.21851E-5" "02300" "PTPN11_000047" "g.112915523A>G" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS3, PM1, PM2, PM5, PP2, PP3, PP4, PP5" "Germline/De novo (untested)" "" "rs28933386" "0" "" "" "g.112477719A>G" "" "pathogenic (dominant)" "ACMG"
"0000881194" "0" "90" "12" "112888172" "112888172" "subst" "8.13749E-6" "02300" "PTPN11_000004" "g.112888172A>G" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS3, PM1, PM2, PP2, PP3, PP5" "Germline/De novo (untested)" "" "rs121918459" "0" "" "" "g.112450368A>G" "" "pathogenic (dominant)" "ACMG"
"0000881195" "0" "90" "12" "112888220" "112888220" "subst" "0" "02300" "PTPN11_000021" "g.112888220A>G" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PM5, PP3, PP4, PP5" "Germline/De novo (untested)" "" "rs121918466" "0" "" "" "g.112450416A>G" "" "pathogenic (dominant)" "ACMG"
"0000881196" "0" "90" "12" "112915523" "112915523" "subst" "1.21851E-5" "02300" "PTPN11_000047" "g.112915523A>G" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3, PP5" "Germline/De novo (untested)" "" "rs28933386" "0" "" "" "g.112477719A>G" "" "pathogenic (dominant)" "ACMG"
"0000881197" "0" "90" "12" "112926887" "112926887" "subst" "4.06058E-6" "02300" "PTPN11_000090" "g.112926887G>C" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS1, PM1, PM2, PM5, PP2, PP3, PP5" "Germline/De novo (untested)" "" "rs397507545" "0" "" "" "g.112489083G>C" "" "pathogenic (dominant)" "ACMG"
"0000881198" "0" "90" "12" "112926248" "112926248" "subst" "0" "02300" "PTPN11_000080" "g.112926248G>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3, PP5" "Germline/De novo (untested)" "" "rs121918468" "0" "" "" "g.112488444G>T" "" "pathogenic (dominant)" "ACMG"
"0000881199" "21" "90" "12" "112926872" "112926872" "subst" "4.06058E-6" "02300" "PTPN11_000086" "g.112926872C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3, PP5" "Germline" "" "rs397507541" "0" "" "" "g.112489068C>T" "" "pathogenic (dominant)" "ACMG"
"0000881200" "11" "90" "12" "112910793" "112910793" "subst" "4.13237E-6" "02300" "PTPN11_000067" "g.112910793G>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP2, PP3, PP5" "Germline" "" "rs397507527" "0" "" "" "g.112472989G>T" "" "pathogenic (dominant)" "ACMG"
"0000890278" "0" "70" "12" "112888150" "112888150" "subst" "0" "02327" "PTPN11_000013" "g.112888150A>G" "" "" "" "PTPN11(NM_002834.3):c.166A>G (p.(Ile56Val), p.I56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000890279" "0" "10" "12" "112888333" "112888333" "subst" "0.000883493" "02329" "PTPN11_000151" "g.112888333T>G" "" "" "" "PTPN11(NM_001330437.1):c.332+17T>G (p.(=)), PTPN11(NM_002834.5):c.332+17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000890280" "0" "50" "12" "112891067" "112891067" "subst" "0" "02325" "PTPN11_000152" "g.112891067G>C" "" "" "" "PTPN11(NM_002834.5):c.401G>C (p.S134T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890281" "0" "30" "12" "112915723" "112915723" "subst" "1.62456E-5" "02326" "PTPN11_000153" "g.112915723C>T" "" "" "" "PTPN11(NM_002834.3):c.996C>T (p.G332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890282" "0" "50" "12" "112924286" "112924286" "subst" "1.22063E-5" "02329" "PTPN11_000132" "g.112924286C>T" "" "" "" "PTPN11(NM_002834.5):c.1232C>T (p.T411M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890283" "0" "90" "12" "112926890" "112926890" "subst" "4.06065E-6" "02327" "PTPN11_000001" "g.112926890A>G" "" "" "" "PTPN11(NM_002834.3):c.1510A>G (p.(Met504Val)), PTPN11(NM_002834.5):c.1510A>G (p.M504V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000913748" "0" "90" "12" "112888172" "112888172" "subst" "8.13749E-6" "02325" "PTPN11_000004" "g.112888172A>G" "" "" "" "PTPN11(NM_002834.3):c.188A>G (p.Y63C), PTPN11(NM_002834.5):c.188A>G (p.Y63C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000913749" "0" "10" "12" "112888239" "112888239" "subst" "0.00561327" "01804" "PTPN11_000049" "g.112888239C>T" "" "" "" "PTPN11(NM_001330437.1):c.255C>T (p.(His85=)), PTPN11(NM_002834.5):c.255C>T (p.H85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000913750" "0" "30" "12" "112888333" "112888333" "subst" "0.000883493" "01804" "PTPN11_000151" "g.112888333T>G" "" "" "" "PTPN11(NM_001330437.1):c.332+17T>G (p.(=)), PTPN11(NM_002834.5):c.332+17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913751" "0" "50" "12" "112891121" "112891121" "subst" "1.21898E-5" "01804" "PTPN11_000025" "g.112891121G>A" "" "" "" "PTPN11(NM_002834.3):c.455G>A (p.R152H, p.(Arg152His)), PTPN11(NM_002834.5):c.455G>A (p.R152H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000913752" "0" "30" "12" "112891203" "112891203" "subst" "0.00994303" "01804" "PTPN11_000050" "g.112891203G>C" "" "" "" "PTPN11(NM_001330437.1):c.525+12G>C (p.(=)), PTPN11(NM_002834.3):c.525+12G>C, PTPN11(NM_002834.5):c.525+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913753" "0" "30" "12" "112892466" "112892466" "subst" "0" "01804" "PTPN11_000154" "g.112892466A>G" "" "" "" "PTPN11(NM_002834.3):c.624A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913754" "0" "90" "12" "112893772" "112893772" "subst" "4.06299E-6" "01804" "PTPN11_000155" "g.112893772A>G" "" "" "" "PTPN11(NM_002834.3):c.661A>G (p.(Ile221Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000913755" "0" "50" "12" "112915779" "112915779" "subst" "0.00044674" "02325" "PTPN11_000156" "g.112915779G>A" "" "" "" "PTPN11(NM_002834.5):c.1052G>A (p.R351Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000913756" "0" "30" "12" "112919869" "112919869" "subst" "0.0177554" "01804" "PTPN11_000100" "g.112919869C>A" "" "" "" "PTPN11(NM_001330437.1):c.1093-9C>A (p.(=)), PTPN11(NM_002834.3):c.1093-9C>A, PTPN11(NM_002834.5):c.1093-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913757" "0" "70" "12" "112926270" "112926270" "subst" "4.06554E-6" "01804" "PTPN11_000082" "g.112926270C>T" "" "" "" "PTPN11(NM_001330437.1):c.1415C>T (p.(Thr472Met)), PTPN11(NM_002834.3):c.1403C>T (p.T468M), PTPN11(NM_002834.5):c.1403C>T (p.T468M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000913758" "0" "70" "12" "112940061" "112940061" "subst" "0" "01804" "PTPN11_000157" "g.112940061G>C" "" "" "" "PTPN11(NM_002834.3):c.1712+1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000918148" "0" "70" "12" "112910785" "112910785" "subst" "3.30472E-5" "01164" "PTPN11_000054" "g.112910785G>A" "" "" "" "" "ClinGen Expert Panel Curation: class 5 - Pathogenic" "Germline" "?" "" "0" "" "" "" "VCV000040522.39" "pathogenic (dominant)" "ACMG"
"0000920415" "0" "70" "12" "112888151" "112888151" "subst" "0" "01164" "PTPN11_000158" "g.112888151T>G" "" "" "" "" "ACMG: PP3_STR, PM1, PM5, PM2_SUP, PP2; substitutions c.167T>C (p.Ile56Thr) and c.166A>G (p.Ile56Val) reported as pathogenic by the RASopathy Expert Panel" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG"
"0000921878" "0" "90" "12" "112891083" "112891083" "subst" "0" "00006" "PTPN11_000023" "g.112891083G>C" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.112453279G>C" "" "pathogenic (dominant)" ""
"0000925541" "0" "90" "12" "112910827" "112910827" "subst" "0" "02325" "PTPN11_000068" "g.112910827A>G" "" "" "" "PTPN11(NM_002834.3):c.836A>G (p.(Tyr279Cys)), PTPN11(NM_002834.5):c.836A>G (p.Y279C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000925542" "0" "90" "12" "112910844" "112910844" "subst" "0" "02329" "PTPN11_000071" "g.112910844T>C" "" "" "" "PTPN11(NM_002834.3):c.853T>C (p.(Phe285Leu)), PTPN11(NM_002834.5):c.853T>C (p.F285L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000927852" "0" "90" "12" "112910827" "112910827" "subst" "0" "03779" "PTPN11_000068" "g.112910827A>G" "" "" "" "" "" "Unknown" "" "rs121918456" "0" "" "" "" "" "pathogenic" ""
"0000930014" "0" "70" "12" "112888199" "112888199" "subst" "0" "02325" "PTPN11_000028" "g.112888199C>T" "" "" "" "PTPN11(NM_002834.5):c.215C>T (p.A72V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000930015" "0" "30" "12" "112892351" "112892351" "subst" "0.000427451" "01804" "PTPN11_000159" "g.112892351T>C" "" "" "" "PTPN11(NM_001330437.1):c.526-17T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930016" "0" "30" "12" "112892382" "112892382" "subst" "0" "01804" "PTPN11_000141" "g.112892382C>T" "" "" "" "PTPN11(NM_001330437.1):c.540C>T (p.(Asp180=)), PTPN11(NM_002834.3):c.540C>T (p.D180=), PTPN11(NM_002834.5):c.540C>T (p.D180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930017" "0" "50" "12" "112892398" "112892398" "subst" "6.91529E-5" "02325" "PTPN11_000137" "g.112892398C>T" "" "" "" "PTPN11(NM_001330437.1):c.556C>T (p.(Arg186Trp)), PTPN11(NM_002834.3):c.556C>T (p.R186W), PTPN11(NM_002834.5):c.556C>T (p.R186W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000930018" "0" "90" "12" "112926908" "112926908" "subst" "0" "02329" "PTPN11_000094" "g.112926908C>G" "" "" "" "PTPN11(NM_002834.5):c.1528C>G (p.Q510E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000933305" "0" "90" "12" "112888193" "112888193" "subst" "0" "03779" "PTPN11_000160" "g.112888193A>G" "" "" "" "" "" "Unknown" "" "rs397516801" "0" "" "" "" "" "pathogenic" ""
"0000949841" "0" "90" "12" "112888156" "112888156" "subst" "0" "02325" "PTPN11_000040" "g.112888156A>G" "" "" "" "PTPN11(NM_002834.5):c.172A>G (p.N58D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000949842" "0" "50" "12" "112893772" "112893772" "subst" "4.06299E-6" "02327" "PTPN11_000155" "g.112893772A>G" "" "" "" "PTPN11(NM_002834.3):c.661A>G (p.(Ile221Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949843" "0" "30" "12" "112893886" "112893887" "del" "0" "01804" "PTPN11_000161" "g.112893886_112893887del" "" "" "" "PTPN11(NM_002834.3):c.756+19_756+20del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949844" "0" "90" "12" "112910776" "112910776" "subst" "0" "02327" "PTPN11_000162" "g.112910776T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000949845" "0" "70" "12" "112910844" "112910844" "subst" "0" "01804" "PTPN11_000071" "g.112910844T>C" "" "" "" "PTPN11(NM_002834.3):c.853T>C (p.(Phe285Leu)), PTPN11(NM_002834.5):c.853T>C (p.F285L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000949846" "0" "90" "12" "112926897" "112926897" "subst" "0" "02327" "PTPN11_000134" "g.112926897A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000949847" "0" "90" "12" "112926909" "112926909" "subst" "4.06058E-6" "02326" "PTPN11_000007" "g.112926909A>G" "" "" "" "PTPN11(NM_002834.3):c.1529A>G (p.Q510R), PTPN11(NM_002834.5):c.1529A>G (p.(Gln510Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000949848" "0" "50" "12" "112939931" "112939931" "subst" "0" "01804" "PTPN11_000163" "g.112939931A>G" "" "" "" "PTPN11(NM_002834.3):c.1600-17A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000952225" "0" "70" "12" "112924336" "112924336" "subst" "4.06316E-6" "00006" "PTPN11_000120" "g.112924336G>A" "" "{PMID:Imafidon 2021:34136434}" "" "" "" "De novo" "" "" "0" "" "" "g.112486532G>A" "" "likely pathogenic (dominant)" ""
"0000960167" "0" "90" "12" "112891083" "112891083" "subst" "0" "00006" "PTPN11_000023" "g.112891083G>C" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PS2_VS, PS1, PS3, PS4, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.112453279G>C" "" "pathogenic (dominant)" "ACMG"
"0000960169" "0" "90" "12" "112910827" "112910827" "subst" "0" "00006" "PTPN11_000068" "g.112910827A>G" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PS2_VS, PS2, PM2, PM5, PP1_S, PP3" "De novo" "" "" "0" "" "" "g.112473023A>G" "" "pathogenic (dominant)" "ACMG"
"0000960170" "0" "50" "12" "112915728" "112915728" "subst" "0" "00006" "PTPN11_000140" "g.112915728T>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.112477924T>A" "" "VUS" "ACMG"
"0000960172" "0" "90" "12" "112891083" "112891083" "subst" "0" "00006" "PTPN11_000023" "g.112891083G>C" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PS2_VS, PS1, PS3, PS4, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.112453279G>C" "" "pathogenic (dominant)" "ACMG"
"0000960173" "0" "90" "12" "112910827" "112910827" "subst" "0" "00006" "PTPN11_000068" "g.112910827A>G" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PS2_VS, PS2, PM2, PM5, PP1_S, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.112473023A>G" "" "pathogenic (dominant)" "ACMG"
"0000966719" "0" "90" "12" "112888198" "112888198" "subst" "0" "02325" "PTPN11_000032" "g.112888198G>A" "" "" "" "PTPN11(NM_002834.3):c.214G>A (p.A72T), PTPN11(NM_002834.5):c.214G>A (p.A72T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000966720" "0" "90" "12" "112888199" "112888199" "subst" "0" "02329" "PTPN11_000029" "g.112888199C>G" "" "" "" "PTPN11(NM_002834.5):c.215C>G (p.A72G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000966721" "0" "30" "12" "112891152" "112891152" "subst" "7.72E-5" "01804" "PTPN11_000136" "g.112891152C>T" "" "" "" "PTPN11(NM_001330437.1):c.486C>T (p.(Asp162=)), PTPN11(NM_002834.3):c.486C>T (p.D162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000966722" "0" "30" "12" "112892382" "112892382" "subst" "0" "02329" "PTPN11_000141" "g.112892382C>T" "" "" "" "PTPN11(NM_001330437.1):c.540C>T (p.(Asp180=)), PTPN11(NM_002834.3):c.540C>T (p.D180=), PTPN11(NM_002834.5):c.540C>T (p.D180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000966723" "0" "50" "12" "112893772" "112893772" "subst" "0" "01804" "PTPN11_000164" "g.112893772A>T" "" "" "" "PTPN11(NM_002834.3):c.661A>T (p.(Ile221Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000966724" "0" "90" "12" "112915456" "112915456" "subst" "0" "02326" "PTPN11_000074" "g.112915456T>G" "" "" "" "PTPN11(NM_002834.3):c.855T>G (p.F285L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000966725" "0" "90" "12" "112915523" "112915523" "subst" "1.21851E-5" "02329" "PTPN11_000047" "g.112915523A>G" "" "" "" "PTPN11(NM_002834.3):c.922A>G (p.N308D, p.(Asn308Asp)), PTPN11(NM_002834.5):c.922A>G (p.N308D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000966726" "0" "10" "12" "112924453" "112924453" "subst" "0.00133711" "01804" "PTPN11_000165" "g.112924453C>T" "" "" "" "PTPN11(NM_001330437.1):c.1391+20C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000980013" "0" "90" "12" "112891083" "112891083" "subst" "0" "01804" "PTPN11_000023" "g.112891083G>C" "" "" "" "PTPN11(NM_002834.5):c.417G>C (p.E139D, p.(Glu139Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000980014" "0" "50" "12" "112892398" "112892398" "subst" "6.91529E-5" "01804" "PTPN11_000137" "g.112892398C>T" "" "" "" "PTPN11(NM_001330437.1):c.556C>T (p.(Arg186Trp)), PTPN11(NM_002834.3):c.556C>T (p.R186W), PTPN11(NM_002834.5):c.556C>T (p.R186W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980015" "0" "30" "12" "112892458" "112892458" "subst" "0" "01804" "PTPN11_000053" "g.112892458T>C" "" "" "" "PTPN11(NM_001330437.1):c.616T>C (p.(Leu206=)), PTPN11(NM_002834.3):c.616T>C (p.L206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980016" "0" "30" "12" "112915717" "112915717" "subst" "4.46744E-5" "01804" "PTPN11_000099" "g.112915717A>C" "" "" "" "PTPN11(NM_002834.3):c.990A>C (p.(Thr330=)), PTPN11(NM_002834.5):c.990A>C (p.T330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980017" "0" "90" "12" "112915778" "112915778" "subst" "0" "01804" "PTPN11_000079" "g.112915778C>T" "" "" "" "PTPN11(NM_002834.3):c.1051C>T (p.(Arg351Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000980018" "0" "50" "12" "112919975" "112919975" "subst" "1.21834E-5" "01804" "PTPN11_000166" "g.112919975C>T" "" "" "" "PTPN11(NM_002834.5):c.1190C>T (p.(Thr397Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980019" "0" "30" "12" "112926242" "112926242" "subst" "1.21974E-5" "01804" "PTPN11_000167" "g.112926242C>T" "" "" "" "PTPN11(NM_002834.3):c.1380-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980020" "0" "50" "12" "112926288" "112926288" "subst" "0" "01804" "PTPN11_000168" "g.112926288T>C" "" "" "" "PTPN11(NM_002834.5):c.1421T>C (p.(Ile474Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980021" "0" "30" "12" "112939968" "112939968" "subst" "2.84842E-5" "02329" "PTPN11_000169" "g.112939968C>T" "" "" "" "PTPN11(NM_002834.5):c.1620C>T (p.H540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980022" "0" "10" "12" "112940006" "112940006" "subst" "0.000455629" "02330" "PTPN11_000112" "g.112940006C>T" "" "" "" "PTPN11(NM_001330437.2):c.1670C>T (p.T557M), PTPN11(NM_002834.3):c.1658C>T (p.T553M, p.(Thr553Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000980023" "0" "50" "12" "112940039" "112940039" "subst" "0" "02327" "PTPN11_000170" "g.112940039C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000984911" "11" "50" "12" "112915480" "112915480" "subst" "0" "00006" "PTPN11_000171" "g.112915480C>G" "" "{PMID:Pan 2024:38479391}, {DOI:Pan 2024:10.1016/j.ajhg.2024.02.007}" "" "" "inherited from unaffected father" "Germline" "" "" "0" "" "" "g.112477676C>G" "" "VUS" ""
"0000999632" "0" "50" "12" "112856926" "112856926" "subst" "0" "01804" "PTPN11_000172" "g.112856926G>A" "" "" "" "PTPN11(NM_002834.3):c.11G>A (p.(Arg4Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000999634" "0" "30" "12" "112884060" "112884060" "subst" "0" "02329" "PTPN11_000173" "g.112884060A>C" "" "" "" "PTPN11(NM_002834.5):c.15-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000999635" "0" "50" "12" "112884129" "112884129" "subst" "4.06154E-6" "01804" "PTPN11_000174" "g.112884129A>G" "" "" "" "PTPN11(NM_002834.3):c.64A>G (p.(Thr22Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000999636" "0" "90" "12" "112888150" "112888150" "subst" "0" "01804" "PTPN11_000013" "g.112888150A>G" "" "" "" "PTPN11(NM_002834.3):c.166A>G (p.(Ile56Val), p.I56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000999637" "0" "90" "12" "112888202" "112888202" "subst" "0" "01804" "PTPN11_000030" "g.112888202C>T" "" "" "" "PTPN11(NM_002834.3):c.218C>T (p.(Thr73Ile)), PTPN11(NM_002834.5):c.218C>T (p.T73I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000999638" "0" "90" "12" "112888212" "112888212" "subst" "0" "01804" "PTPN11_000019" "g.112888212G>C" "" "" "" "PTPN11(NM_002834.3):c.228G>C (p.(Glu76Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000999639" "0" "90" "12" "112891083" "112891083" "subst" "0" "01804" "PTPN11_000024" "g.112891083G>T" "" "" "" "PTPN11(NM_002834.3):c.417G>T (p.(Glu139Asp)), PTPN11(NM_002834.5):c.417G>T (p.E139D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000999640" "0" "90" "12" "112910758" "112910758" "subst" "0" "01804" "PTPN11_000065" "g.112910758A>G" "" "" "" "PTPN11(NM_001330437.1):c.767A>G (p.(Gln256Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000999641" "0" "50" "12" "112915494" "112915494" "subst" "4.06171E-5" "01804" "PTPN11_000175" "g.112915494A>G" "" "" "" "PTPN11(NM_002834.3):c.893A>G (p.(Asn298Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000999642" "0" "30" "12" "112915828" "112915828" "subst" "8.13246E-6" "01804" "PTPN11_000176" "g.112915828C>T" "" "" "" "PTPN11(NM_002834.3):c.1092+9C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000999643" "0" "50" "12" "112919996" "112919996" "subst" "0" "01804" "PTPN11_000177" "g.112919996C>T" "" "" "" "PTPN11(NM_001330437.1):c.1211C>T (p.(Ser404Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000999644" "0" "50" "12" "112924280" "112924280" "subst" "6.51381E-5" "01804" "PTPN11_000143" "g.112924280G>C" "" "" "" "PTPN11(NM_002834.3):c.1226G>C (p.(Gly409Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000999645" "0" "50" "12" "112924328" "112924328" "subst" "0" "02327" "PTPN11_000178" "g.112924328A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000999646" "0" "90" "12" "112926890" "112926890" "subst" "4.06065E-6" "01804" "PTPN11_000001" "g.112926890A>G" "" "" "" "PTPN11(NM_002834.3):c.1510A>G (p.(Met504Val)), PTPN11(NM_002834.5):c.1510A>G (p.M504V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000999647" "0" "50" "12" "112940054" "112940054" "subst" "0" "02329" "PTPN11_000179" "g.112940054G>A" "" "" "" "PTPN11(NM_002834.5):c.1706G>A (p.C569Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000999648" "0" "50" "12" "112942498" "112942498" "subst" "0" "02327" "PTPN11_000180" "g.112942498G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001014904" "0" "30" "12" "112856950" "112856950" "subst" "0.000595825" "02329" "PTPN11_000181" "g.112856950C>A" "" "" "" "PTPN11(NM_002834.5):c.14+21C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001014905" "0" "90" "12" "112888198" "112888198" "subst" "0" "02325" "PTPN11_000033" "g.112888198G>T" "" "" "" "PTPN11(NM_002834.3):c.214G>T (p.(Ala72Ser)), PTPN11(NM_002834.5):c.214G>T (p.A72S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001014906" "0" "90" "12" "112888202" "112888202" "subst" "0" "02329" "PTPN11_000030" "g.112888202C>T" "" "" "" "PTPN11(NM_002834.3):c.218C>T (p.(Thr73Ile)), PTPN11(NM_002834.5):c.218C>T (p.T73I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001014907" "0" "90" "12" "112910785" "112910785" "subst" "3.30472E-5" "02329" "PTPN11_000054" "g.112910785G>A" "" "" "" "PTPN11(NM_001330437.1):c.794G>A (p.(Arg265Gln)), PTPN11(NM_002834.3):c.794G>A (p.R265Q), PTPN11(NM_002834.5):c.794G>A (p.R265Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001014908" "0" "50" "12" "112915499" "112915499" "subst" "0" "02325" "PTPN11_000182" "g.112915499C>T" "" "" "" "PTPN11(NM_002834.5):c.898C>T (p.P300S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001014909" "0" "50" "12" "112919909" "112919909" "subst" "1.62462E-5" "02329" "PTPN11_000183" "g.112919909A>G" "" "" "" "PTPN11(NM_002834.5):c.1124A>G (p.Y375C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001014910" "0" "30" "12" "112926847" "112926847" "subst" "0" "01804" "PTPN11_000184" "g.112926847C>T" "" "" "" "PTPN11(NM_002834.3):c.1467C>T (p.(Asp489=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001014911" "0" "30" "12" "112942616" "112942616" "subst" "4.25974E-6" "01804" "PTPN11_000185" "g.112942616T>A" "" "" "" "PTPN11(NM_001330437.1):c.*32+16T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001026100" "0" "50" "12" "112884184" "112884184" "subst" "0" "02327" "PTPN11_000186" "g.112884184A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001026101" "0" "90" "12" "112910827" "112910827" "subst" "0" "02327" "PTPN11_000187" "g.112910827A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001026102" "0" "90" "12" "112915524" "112915524" "subst" "0" "02329" "PTPN11_000076" "g.112915524A>G" "" "" "" "PTPN11(NM_002834.5):c.923A>G (p.(Asn308Ser), p.N308S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001026103" "0" "50" "12" "112924289" "112924289" "subst" "0" "02325" "PTPN11_000188" "g.112924289A>G" "" "" "" "PTPN11(NM_002834.5):c.1235A>G (p.E412G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001026104" "0" "30" "12" "112924460" "112924460" "subst" "2.92207E-5" "02329" "PTPN11_000189" "g.112924460C>T" "" "" "" "PTPN11(NM_002834.5):c.1379+27C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001026105" "0" "90" "12" "112926884" "112926884" "subst" "0" "02325" "PTPN11_000088" "g.112926884T>A" "" "" "" "PTPN11(NM_002834.5):c.1504T>A (p.S502T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001038954" "0" "50" "12" "112884150" "112884150" "subst" "0" "01804" "PTPN11_000190" "g.112884150T>G" "" "" "" "PTPN11(NM_002834.5):c.85T>G (p.(Phe29Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038955" "0" "90" "12" "112884189" "112884189" "subst" "0" "01804" "PTPN11_000046" "g.112884189A>G" "" "" "" "PTPN11(NM_002834.5):c.124A>G (p.(Thr42Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001038956" "0" "70" "12" "112892486" "112892486" "subst" "0" "02327" "PTPN11_000191" "g.112892486T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001038957" "0" "90" "12" "112910793" "112910793" "subst" "4.13237E-6" "01804" "PTPN11_000067" "g.112910793G>T" "" "" "" "PTPN11(NM_002834.5):c.802G>T (p.(Gly268Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001038958" "0" "90" "12" "112915524" "112915524" "subst" "0" "01804" "PTPN11_000076" "g.112915524A>G" "" "" "" "PTPN11(NM_002834.5):c.923A>G (p.(Asn308Ser), p.N308S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001038959" "0" "50" "12" "112919966" "112919966" "subst" "4.06108E-6" "01804" "PTPN11_000192" "g.112919966A>G" "" "" "" "PTPN11(NM_002834.3):c.1181A>G (p.(His394Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038960" "0" "90" "12" "112926884" "112926884" "subst" "0" "02325" "PTPN11_000002" "g.112926884T>G" "" "" "" "PTPN11(NM_002834.5):c.1504T>G (p.S502A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001038961" "0" "90" "12" "112926887" "112926887" "subst" "0" "01804" "PTPN11_000008" "g.112926887G>A" "" "" "" "PTPN11(NM_002834.3):c.1507G>A (p.(Gly503Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001038962" "0" "90" "12" "112926909" "112926909" "subst" "4.06058E-6" "01804" "PTPN11_000007" "g.112926909A>G" "" "" "" "PTPN11(NM_002834.3):c.1529A>G (p.Q510R), PTPN11(NM_002834.5):c.1529A>G (p.(Gln510Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001044738" "0" "90" "12" "112926887" "112926887" "subst" "4.06058E-6" "03779" "PTPN11_000090" "g.112926887G>C" "" "" "" "" "" "Unknown" "" "rs397507545" "0" "" "" "" "" "pathogenic" ""
"0001046345" "0" "30" "12" "112892400" "112892400" "subst" "0.000492178" "01804" "PTPN11_000104" "g.112892400G>T" "" "" "" "PTPN11(NM_001330437.1):c.558G>T (p.(Arg186=)), PTPN11(NM_002834.3):c.558G>T (p.R186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001046346" "0" "30" "12" "112892400" "112892400" "subst" "0.000492178" "02327" "PTPN11_000104" "g.112892400G>T" "" "" "" "PTPN11(NM_001330437.1):c.558G>T (p.(Arg186=)), PTPN11(NM_002834.3):c.558G>T (p.R186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes PTPN11
## Count = 579
"{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein/Domain}}" "{{VariantOnTranscript/VariO/DNA}}" "{{VariantOnTranscript/VariO/Protein}}" "{{VariantOnTranscript/VariO/RNA}}" "{{VariantOnTranscript/CpG}}" "{{VariantOnTranscript/Enzyme/Kinase_activity}}" "{{VariantOnTranscript/mRNA_level}}" "{{VariantOnTranscript/Protein_level}}"
"0000036402" "00017145" "95" "1529" "0" "1529" "0" "c.1529A>G" "r.(?)" "p.(Gln510Arg)" "13" "" "" "" "" "" "" "" ""
"0000071905" "00017145" "70" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Asp61Asn)" "3" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000071906" "00017145" "70" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "3" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000071907" "00017145" "70" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000071908" "00017145" "70" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Gly268Ser)" "7" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000071909" "00017145" "70" "1504" "0" "1504" "0" "c.1504T>G" "r.(?)" "p.(Ser502Ala)" "13" "" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000071910" "00017145" "70" "1510" "0" "1510" "0" "c.1510A>G" "r.(?)" "p.(Met504Val)" "13" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000079519" "00017145" "00" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Gly503Arg)" "" "" "" "" "" "" "" "" ""
"0000079570" "00017145" "00" "184" "0" "184" "0" "c.184T>G" "r.(?)" "p.(Tyr62Asp)" "" "" "" "" "" "" "" "" ""
"0000128862" "00017145" "50" "598" "0" "598" "0" "c.598A>T" "r.(?)" "p.(Asn200Tyr)" "5" "SH2" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000128863" "00017145" "50" "182" "0" "182" "0" "c.182A>C" "r.(?)" "p.(Asp61Ala)" "" "SH2" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000128864" "00017145" "50" "166" "0" "166" "0" "c.166A>G" "r.(?)" "p.(Ile56Val)" "3" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000128865" "00017145" "50" "175" "0" "175" "0" "c.175A>G" "r.(?)" "p.(Thr59Ala)" "3" "SH2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129245" "00017145" "77" "215" "0" "215" "0" "c.215C>A" "r.(?)" "p.(Ala72Asp)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129246" "00017145" "77" "124" "0" "124" "0" "c.124A>G" "r.(?)" "p.(Thr42Ala)" "2" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129247" "00017145" "77" "124" "0" "124" "0" "c.124A>G" "r.(?)" "p.(Thr42Ala)" "2" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129248" "00017145" "77" "172" "0" "172" "0" "c.172A>G" "r.(?)" "p.(Asn58Asp)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129249" "00017145" "77" "174" "0" "174" "0" "c.174C>G" "r.(?)" "p.(Asn58Lys)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129250" "00017145" "77" "124" "0" "124" "0" "c.124A>G" "r.(?)" "p.(Thr42Ala)" "2" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129251" "00017145" "77" "124" "0" "124" "0" "c.124A>G" "r.(?)" "p.(Thr42Ala)" "2" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129252" "00017145" "77" "124" "0" "124" "0" "c.124A>G" "r.(?)" "p.(Thr42Ala)" "2" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129253" "00017145" "77" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Glu76Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129254" "00017145" "77" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Glu76Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129255" "00017145" "77" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Glu76Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129256" "00017145" "77" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Glu76Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129257" "00017145" "77" "172" "0" "172" "0" "c.172A>T" "r.(?)" "p.(Asn58Tyr)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129258" "00017145" "77" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Glu76Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129259" "00017145" "77" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Glu76Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129260" "00017145" "77" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Glu76Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129261" "00017145" "77" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.(Gln79Arg)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129262" "00017145" "77" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.(Gln79Arg)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129263" "00017145" "77" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.(Gln79Arg)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129264" "00017145" "77" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.(Gln79Arg)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129265" "00017145" "77" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.(Gln79Arg)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129266" "00017145" "77" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.(Gln79Arg)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129267" "00017145" "77" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.(Gln79Arg)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129268" "00017145" "77" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.(Gln79Arg)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129269" "00017145" "77" "417" "0" "417" "0" "c.417G>C" "r.(?)" "p.(Glu139Asp)" "4" "SH2_2" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129270" "00017145" "77" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.(Gln79Arg)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129271" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129272" "00017145" "77" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Glu69Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129273" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129274" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129275" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129276" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129277" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129278" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129279" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129280" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129281" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129282" "00017145" "77" "184" "0" "184" "0" "c.184T>G" "r.(?)" "p.(Tyr62Asp)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129283" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129284" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129285" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129286" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129287" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129288" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129289" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129290" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129291" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129292" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129293" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129294" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129295" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129296" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129297" "00017145" "77" "236" "0" "236" "0" "c.236A>C" "r.(?)" "p.(Gln79Pro)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129298" "00017145" "77" "236" "0" "236" "0" "c.236A>C" "r.(?)" "p.(Gln79Pro)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129299" "00017145" "77" "226" "0" "226" "0" "c.226G>C" "r.(?)" "p.(Glu76Gln)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129300" "00017145" "77" "227" "0" "227" "0" "c.227A>T" "r.(?)" "p.(Glu76Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129301" "00017145" "77" "226" "0" "226" "0" "c.226G>C" "r.(?)" "p.(Glu76Gln)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129302" "00017145" "77" "226" "0" "226" "0" "c.226G>C" "r.(?)" "p.(Glu76Gln)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129303" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129304" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129305" "00017145" "77" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.(Gln79Arg)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129306" "00017145" "77" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.(Gln79Arg)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129307" "00017145" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129308" "00017145" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129309" "00017145" "77" "211" "0" "211" "0" "c.211T>C" "r.(?)" "p.(Phe71Leu)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129310" "00017145" "77" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Glu76Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129311" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129312" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129313" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129314" "00017145" "77" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129315" "00017145" "77" "184" "0" "184" "0" "c.184T>G" "r.(?)" "p.(Tyr62Asp)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129316" "00017145" "77" "184" "0" "184" "0" "c.184T>G" "r.(?)" "p.(Tyr62Asp)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129317" "00017145" "77" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Asp61Asn)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129318" "00017145" "77" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Asp61Asn)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129319" "00017145" "77" "184" "0" "184" "0" "c.184T>G" "r.(?)" "p.(Tyr62Asp)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129320" "00017145" "77" "184" "0" "184" "0" "c.184T>G" "r.(?)" "p.(Tyr62Asp)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129321" "00017145" "77" "184" "0" "184" "0" "c.184T>G" "r.(?)" "p.(Tyr62Asp)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129322" "00017145" "77" "184" "0" "184" "0" "c.184T>G" "r.(?)" "p.(Tyr62Asp)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129323" "00017145" "77" "184" "0" "184" "0" "c.184T>G" "r.(?)" "p.(Tyr62Asp)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129324" "00017145" "77" "184" "0" "184" "0" "c.184T>G" "r.(?)" "p.(Tyr62Asp)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129325" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129326" "00017145" "77" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129327" "00017145" "77" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Asp61Tyr)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129328" "00017145" "77" "214" "0" "214" "0" "c.214G>T" "r.(?)" "p.(Ala72Ser)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129329" "00017145" "77" "214" "0" "214" "0" "c.214G>T" "r.(?)" "p.(Ala72Ser)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129330" "00017145" "77" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Glu69Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129331" "00017145" "77" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129332" "00017145" "77" "215" "0" "215" "0" "c.215C>G" "r.(?)" "p.(Ala72Gly)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129333" "00017145" "77" "215" "0" "215" "0" "c.215C>G" "r.(?)" "p.(Ala72Gly)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129334" "00017145" "77" "215" "0" "215" "0" "c.215C>A" "r.(?)" "p.(Ala72Asp)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129335" "00017145" "77" "182" "0" "182" "0" "c.182A>T" "r.(?)" "p.(Asp61Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129336" "00017145" "77" "215" "0" "215" "0" "c.215C>G" "r.(?)" "p.(Ala72Gly)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129337" "00017145" "77" "213" "0" "213" "0" "c.213T>A" "r.(?)" "p.(Phe71Leu)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129338" "00017145" "77" "215" "0" "215" "0" "c.215C>G" "r.(?)" "p.(Ala72Gly)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129339" "00017145" "77" "215" "0" "215" "0" "c.215C>G" "r.(?)" "p.(Ala72Gly)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129340" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129341" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129342" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129343" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129344" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129345" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129346" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129347" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129348" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129349" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129350" "00017145" "77" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Asp61Asn)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129351" "00017145" "77" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Asp61Tyr)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129352" "00017145" "77" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Asp61Tyr)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129353" "00017145" "77" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Asp61Tyr)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129354" "00017145" "77" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Asp61Tyr)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129355" "00017145" "77" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Asp61Tyr)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129356" "00017145" "77" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Asp61Tyr)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129357" "00017145" "77" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Asp61Tyr)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129358" "00017145" "77" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Asp61Tyr)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129359" "00017145" "77" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Asp61Tyr)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129360" "00017145" "77" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Asp61Tyr)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129361" "00017145" "77" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Asp61Tyr)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129362" "00017145" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129363" "00017145" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129364" "00017145" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129365" "00017145" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129366" "00017145" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129367" "00017145" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129368" "00017145" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129369" "00017145" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129370" "00017145" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129371" "00017145" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129372" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129373" "00017145" "77" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129374" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129375" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129376" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129377" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129378" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129379" "00017145" "77" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Glu76Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129380" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129381" "00017145" "77" "226" "0" "226" "0" "c.226G>C" "r.(?)" "p.(Glu76Gln)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129382" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129383" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129384" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129385" "00017145" "77" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Asp61Tyr)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129386" "00017145" "77" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Asp61Tyr)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129387" "00017145" "77" "182" "0" "182" "0" "c.182A>T" "r.(?)" "p.(Asp61Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129388" "00017145" "77" "182" "0" "182" "0" "c.182A>T" "r.(?)" "p.(Asp61Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129389" "00017145" "77" "182" "0" "182" "0" "c.182A>T" "r.(?)" "p.(Asp61Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129390" "00017145" "77" "182" "0" "182" "0" "c.182A>T" "r.(?)" "p.(Asp61Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129391" "00017145" "77" "182" "0" "182" "0" "c.182A>T" "r.(?)" "p.(Asp61Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129392" "00017145" "77" "182" "0" "182" "0" "c.182A>T" "r.(?)" "p.(Asp61Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129393" "00017145" "77" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Asp61Tyr)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129394" "00017145" "77" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Asp61Tyr)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129395" "00017145" "77" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129396" "00017145" "77" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129397" "00017145" "77" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Glu69Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129398" "00017145" "77" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129399" "00017145" "77" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129400" "00017145" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129401" "00017145" "77" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129402" "00017145" "77" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129403" "00017145" "77" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129404" "00017145" "77" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129405" "00017145" "77" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "4" "SH2_2" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129406" "00017145" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129407" "00017145" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129408" "00017145" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129409" "00017145" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129410" "00017145" "77" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129411" "00017145" "77" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129412" "00017145" "77" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129413" "00017145" "77" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129414" "00017145" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129415" "00017145" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129416" "00017145" "77" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129417" "00017145" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129418" "00017145" "77" "182" "0" "182" "0" "c.182A>T" "r.(?)" "p.(Asp61Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129419" "00017145" "77" "182" "0" "182" "0" "c.182A>T" "r.(?)" "p.(Asp61Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129420" "00017145" "77" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129421" "00017145" "77" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129422" "00017145" "77" "182" "0" "182" "0" "c.182A>T" "r.(?)" "p.(Asp61Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129423" "00017145" "77" "182" "0" "182" "0" "c.182A>T" "r.(?)" "p.(Asp61Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129424" "00017145" "77" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129425" "00017145" "77" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129426" "00017145" "77" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129427" "00017145" "77" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129428" "00017145" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129429" "00017145" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129430" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129431" "00017145" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129432" "00017145" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129433" "00017145" "77" "417" "0" "417" "0" "c.417G>T" "r.(?)" "p.(Glu139Asp)" "4" "SH2_2" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129434" "00017145" "77" "417" "0" "417" "0" "c.417G>C" "r.(?)" "p.(Glu139Asp)" "4" "SH2_2" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129435" "00017145" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129436" "00017145" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129437" "00017145" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129438" "00017145" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129439" "00017145" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129440" "00017145" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129441" "00017145" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129442" "00017145" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129443" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129444" "00017145" "77" "227" "0" "227" "0" "c.227A>C" "r.(?)" "p.(Glu76Ala)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129445" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129446" "00017145" "77" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129447" "00017145" "77" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129448" "00017145" "77" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129449" "00017145" "77" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129450" "00017145" "77" "178" "0" "178" "0" "c.178G>C" "r.(?)" "p.(Gly60Arg)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129451" "00017145" "77" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129452" "00017145" "77" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129453" "00017145" "77" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129454" "00017145" "77" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129455" "00017145" "77" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129456" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129457" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129458" "00017145" "77" "228" "0" "228" "0" "c.228G>C" "r.(?)" "p.(Glu76Asp)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129459" "00017145" "77" "228" "0" "228" "0" "c.228G>C" "r.(?)" "p.(Glu76Asp)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129460" "00017145" "77" "227" "0" "227" "0" "c.227A>C" "r.(?)" "p.(Glu76Ala)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129461" "00017145" "77" "227" "0" "227" "0" "c.227A>C" "r.(?)" "p.(Glu76Ala)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129462" "00017145" "77" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Glu76Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129463" "00017145" "77" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Glu76Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129464" "00017145" "77" "228" "0" "228" "0" "c.228G>T" "r.(?)" "p.(Glu76Asp)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129465" "00017145" "77" "228" "0" "228" "0" "c.228G>T" "r.(?)" "p.(Glu76Asp)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129466" "00017145" "77" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129467" "00017145" "77" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Glu76Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129468" "00017145" "77" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Glu76Gly)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129469" "00017145" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129470" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129471" "00017145" "77" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129472" "00017145" "77" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129473" "00017145" "77" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129474" "00017145" "77" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129475" "00017145" "77" "179" "0" "179" "0" "c.179G>C" "r.(?)" "p.(Gly60Ala)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129476" "00017145" "77" "179" "0" "179" "0" "c.179G>C" "r.(?)" "p.(Gly60Ala)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129477" "00017145" "77" "179" "0" "179" "0" "c.179G>C" "r.(?)" "p.(Gly60Ala)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129478" "00017145" "77" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129479" "00017145" "77" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129480" "00017145" "77" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129481" "00017145" "77" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129482" "00017145" "77" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Glu69Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129483" "00017145" "77" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Glu69Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129484" "00017145" "77" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Glu69Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129485" "00017145" "77" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Glu69Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129486" "00017145" "77" "205" "0" "205" "0" "c.205G>C" "r.(?)" "p.(Glu69Gln)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129487" "00017145" "77" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Glu69Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129488" "00017145" "77" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Glu69Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129489" "00017145" "77" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Glu69Lys)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129490" "00017145" "77" "205" "0" "205" "0" "c.205G>C" "r.(?)" "p.(Glu69Gln)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129491" "00017145" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "3" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129492" "00017145" "55" "211" "0" "213" "0" "c.211_213inv" "r.(?)" "p.(Phe71Lys)" "" "SH2_1" "DNA insertion (VariO:0142)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000129493" "00017145" "77" "0" "0" "0" "0" "c.417G>?" "r.(?)" "p.(Glu139Asp)" "" "SH2_2" "" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000130209" "00017145" "90" "854" "0" "854" "0" "c.854T>C" "r.(?)" "p.(Phe285Ser)" "" "" "" "" "" "" "" "" ""
"0000132590" "00017145" "50" "598" "0" "598" "0" "c.598A>T" "r.(?)" "p.(Asn200Tyr)" "5" "" "" "" "" "" "" "" ""
"0000132591" "00017145" "50" "182" "0" "182" "0" "c.182A>C" "r.(?)" "p.(Asp61Ala)" "" "" "" "" "" "" "" "" ""
"0000132592" "00017145" "50" "166" "0" "166" "0" "c.166A>G" "r.(?)" "p.(Ile56Val)" "3" "" "" "" "" "" "" "" ""
"0000132593" "00017145" "50" "175" "0" "175" "0" "c.175A>G" "r.(?)" "p.(Thr59Ala)" "3" "" "" "" "" "" "" "" ""
"0000167207" "00017145" "55" "922" "0" "922" "0" "c.922A>G" "r.(922a>g)" "p.(Asn308Asp)" "" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" "" ""
"0000247106" "00017145" "10" "990" "0" "990" "0" "c.990A>C" "r.(?)" "p.(Thr330=)" "" "" "" "" "" "" "" "" ""
"0000294575" "00017145" "10" "1093" "-9" "1093" "-9" "c.1093-9C>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000294576" "00017145" "10" "255" "0" "255" "0" "c.255C>T" "r.(?)" "p.(His85=)" "" "" "" "" "" "" "" "" ""
"0000294577" "00017145" "10" "525" "12" "525" "12" "c.525+12G>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000294578" "00017145" "10" "526" "-8" "526" "-8" "c.526-8C>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000294579" "00017145" "30" "932" "0" "932" "0" "c.932T>C" "r.(?)" "p.(Met311Thr)" "" "" "" "" "" "" "" "" ""
"0000297498" "00017145" "90" "417" "0" "417" "0" "c.417G>T" "r.(?)" "p.(Glu139Asp)" "" "" "" "" "" "" "" "" ""
"0000297499" "00017145" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "" "" "" "" "" "" "" "" ""
"0000299213" "00017145" "10" "1093" "-9" "1093" "-9" "c.1093-9C>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000299214" "00017145" "10" "525" "12" "525" "12" "c.525+12G>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000299215" "00017145" "30" "526" "-8" "526" "-8" "c.526-8C>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000301305" "00017145" "10" "1093" "-9" "1093" "-9" "c.1093-9C>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000301306" "00017145" "70" "179" "0" "179" "0" "c.179G>C" "r.(?)" "p.(Gly60Ala)" "" "" "" "" "" "" "" "" ""
"0000301307" "00017145" "30" "525" "12" "525" "12" "c.525+12G>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000301308" "00017145" "30" "565" "0" "565" "0" "c.565T>G" "r.(?)" "p.(Ser189Ala)" "" "" "" "" "" "" "" "" ""
"0000301309" "00017145" "30" "616" "0" "616" "0" "c.616T>C" "r.(?)" "p.(Leu206=)" "" "" "" "" "" "" "" "" ""
"0000323094" "00017145" "50" "174" "0" "174" "0" "c.174C>G" "r.(?)" "p.(Asn58Lys)" "" "" "" "" "" "" "" "" ""
"0000323096" "00017145" "30" "526" "-8" "526" "-8" "c.526-8C>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000323097" "00017145" "50" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265Gln)" "" "" "" "" "" "" "" "" ""
"0000339107" "00017145" "90" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "" "" "" "" "" "" "" "" ""
"0000339305" "00017145" "30" "616" "0" "616" "0" "c.616T>C" "r.(?)" "p.(Leu206=)" "" "" "" "" "" "" "" "" ""
"0000340881" "00017145" "30" "1023" "0" "1023" "0" "c.1023T>C" "r.(?)" "p.(Phe341=)" "" "" "" "" "" "" "" "" ""
"0000341455" "00017145" "90" "1381" "0" "1381" "0" "c.1381G>T" "r.(?)" "p.(Ala461Ser)" "" "" "" "" "" "" "" "" ""
"0000341456" "00017145" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Ala461Thr)" "" "" "" "" "" "" "" "" ""
"0000341570" "00017145" "90" "215" "0" "215" "0" "c.215C>G" "r.(?)" "p.(Ala72Gly)" "" "" "" "" "" "" "" "" ""
"0000341572" "00017145" "90" "214" "0" "214" "0" "c.214G>T" "r.(?)" "p.(Ala72Ser)" "" "" "" "" "" "" "" "" ""
"0000341573" "00017145" "70" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "" "" "" "" "" "" "" "" ""
"0000341969" "00017145" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "" "" "" "" "" "" "" "" ""
"0000342473" "00017145" "90" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265Gln)" "" "" "" "" "" "" "" "" ""
"0000342543" "00017145" "90" "865" "0" "865" "0" "c.865A>G" "r.(?)" "p.(Arg289Gly)" "" "" "" "" "" "" "" "" ""
"0000342704" "00017145" "90" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Arg351Ter)" "" "" "" "" "" "" "" "" ""
"0000343014" "00017145" "90" "1493" "0" "1493" "0" "c.1493G>T" "r.(?)" "p.(Arg498Leu)" "" "" "" "" "" "" "" "" ""
"0000343015" "00017145" "90" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498Trp)" "" "" "" "" "" "" "" "" ""
"0000343563" "00017145" "50" "28" "0" "28" "0" "c.28A>G" "r.(?)" "p.(Asn10Asp)" "" "" "" "" "" "" "" "" ""
"0000343700" "00017145" "90" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Asn308Ser)" "" "" "" "" "" "" "" "" ""
"0000343793" "00017145" "90" "172" "0" "172" "0" "c.172A>G" "r.(?)" "p.(Asn58Asp)" "" "" "" "" "" "" "" "" ""
"0000343794" "00017145" "90" "172" "0" "172" "0" "c.172A>C" "r.(?)" "p.(Asn58His)" "" "" "" "" "" "" "" "" ""
"0000343795" "00017145" "90" "174" "0" "174" "0" "c.174C>G" "r.(?)" "p.(Asn58Lys)" "" "" "" "" "" "" "" "" ""
"0000343796" "00017145" "90" "174" "0" "174" "0" "c.174C>A" "r.(?)" "p.(Asn58Lys)" "" "" "" "" "" "" "" "" ""
"0000343872" "00017145" "90" "317" "0" "317" "0" "c.317A>C" "r.(?)" "p.(Asp106Ala)" "" "" "" "" "" "" "" "" ""
"0000343919" "00017145" "70" "436" "0" "436" "0" "c.436G>T" "r.(?)" "p.(Asp146Tyr)" "" "" "" "" "" "" "" "" ""
"0000344155" "00017145" "90" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Asp61Asn)" "" "" "" "" "" "" "" "" ""
"0000344156" "00017145" "90" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "" "" "" "" "" "" "" "" ""
"0000344428" "00017145" "50" "1706" "0" "1706" "0" "c.1706G>C" "r.(?)" "p.(Cys569Ser)" "" "" "" "" "" "" "" "" ""
"0000344706" "00017145" "90" "767" "0" "767" "0" "c.767A>G" "r.(?)" "p.(Gln256Arg)" "" "" "" "" "" "" "" "" ""
"0000344881" "00017145" "90" "1529" "0" "1529" "0" "c.1529A>G" "r.(?)" "p.(Gln510Arg)" "" "" "" "" "" "" "" "" ""
"0000344882" "00017145" "90" "1528" "0" "1528" "0" "c.1528C>G" "r.(?)" "p.(Gln510Glu)" "" "" "" "" "" "" "" "" ""
"0000344883" "00017145" "90" "1530" "0" "1530" "0" "c.1530G>C" "r.(?)" "p.(Gln510His)" "" "" "" "" "" "" "" "" ""
"0000344884" "00017145" "90" "1529" "0" "1529" "0" "c.1529A>C" "r.(?)" "p.(Gln510Pro)" "" "" "" "" "" "" "" "" ""
"0000344975" "00017145" "90" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.(Gln79Arg)" "" "" "" "" "" "" "" "" ""
"0000345128" "00017145" "90" "417" "0" "417" "0" "c.417G>C" "r.(?)" "p.(Glu139Asp)" "" "" "" "" "" "" "" "" ""
"0000345129" "00017145" "90" "417" "0" "417" "0" "c.417G>T" "r.(?)" "p.(Glu139Asp)" "" "" "" "" "" "" "" "" ""
"0000345521" "00017145" "90" "205" "0" "205" "0" "c.205G>C" "r.(?)" "p.(Glu69Gln)" "" "" "" "" "" "" "" "" ""
"0000345542" "00017145" "90" "228" "0" "228" "0" "c.228G>C" "r.(?)" "p.(Glu76Asp)" "" "" "" "" "" "" "" "" ""
"0000345543" "00017145" "90" "228" "0" "228" "0" "c.228G>T" "r.(?)" "p.(Glu76Asp)" "" "" "" "" "" "" "" "" ""
"0000345544" "00017145" "90" "227" "0" "227" "0" "c.227A>T" "r.(?)" "p.(Glu76Val)" "" "" "" "" "" "" "" "" ""
"0000345932" "00017145" "90" "802" "0" "802" "0" "c.802G>T" "r.(?)" "p.(Gly268Cys)" "" "" "" "" "" "" "" "" ""
"0000346119" "00017145" "90" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Gly503Arg)" "" "" "" "" "" "" "" "" ""
"0000346120" "00017145" "90" "1507" "0" "1507" "0" "c.1507G>C" "r.(?)" "p.(Gly503Arg)" "" "" "" "" "" "" "" "" ""
"0000346122" "00017145" "90" "1508" "0" "1508" "0" "c.1508G>A" "r.(?)" "p.(Gly503Glu)" "" "" "" "" "" "" "" "" ""
"0000346123" "00017145" "90" "1508" "0" "1508" "0" "c.1508G>T" "r.(?)" "p.(Gly503Val)" "" "" "" "" "" "" "" "" ""
"0000346187" "00017145" "90" "179" "0" "179" "0" "c.179G>C" "r.(?)" "p.(Gly60Ala)" "" "" "" "" "" "" "" "" ""
"0000346188" "00017145" "70" "178" "0" "178" "0" "c.178G>A" "r.(?)" "p.(Gly60Ser)" "" "" "" "" "" "" "" "" ""
"0000346663" "00017145" "90" "846" "0" "846" "0" "c.846C>G" "r.(?)" "p.(Ile282Met)" "" "" "" "" "" "" "" "" ""
"0000346664" "00017145" "90" "844" "0" "844" "0" "c.844A>G" "r.(?)" "p.(Ile282Val)" "" "" "" "" "" "" "" "" ""
"0000346677" "00017145" "50" "925" "0" "925" "0" "c.925A>G" "r.(?)" "p.(Ile309Val)" "" "" "" "" "" "" "" "" ""
"0000347047" "00017145" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Leu261Phe)" "" "" "" "" "" "" "" "" ""
"0000347226" "00017145" "30" "1678" "0" "1678" "0" "c.1678C>T" "r.(?)" "p.(Leu560Phe)" "" "" "" "" "" "" "" "" ""
"0000348013" "00017145" "90" "853" "0" "853" "0" "c.853T>C" "r.(?)" "p.(Phe285Leu)" "" "" "" "" "" "" "" "" ""
"0000348014" "00017145" "90" "855" "0" "855" "0" "c.855T>G" "r.(?)" "p.(Phe285Leu)" "" "" "" "" "" "" "" "" ""
"0000348092" "00017145" "90" "211" "0" "211" "0" "c.211T>C" "r.(?)" "p.(Phe71Leu)" "" "" "" "" "" "" "" "" ""
"0000348093" "00017145" "70" "213" "0" "213" "0" "c.213T>G" "r.(?)" "p.(Phe71Leu)" "" "" "" "" "" "" "" "" ""
"0000348473" "00017145" "90" "1471" "0" "1471" "0" "c.1471C>T" "r.(?)" "p.(Pro491Ser)" "" "" "" "" "" "" "" "" ""
"0000348474" "00017145" "90" "1471" "0" "1471" "0" "c.1471C>A" "r.(?)" "p.(Pro491Thr)" "" "" "" "" "" "" "" "" ""
"0000349059" "00017145" "90" "1504" "0" "1504" "0" "c.1504T>G" "r.(?)" "p.(Ser502Ala)" "" "" "" "" "" "" "" "" ""
"0000349060" "00017145" "90" "1505" "0" "1505" "0" "c.1505C>T" "r.(?)" "p.(Ser502Leu)" "" "" "" "" "" "" "" "" ""
"0000349061" "00017145" "90" "1504" "0" "1504" "0" "c.1504T>A" "r.(?)" "p.(Ser502Thr)" "" "" "" "" "" "" "" "" ""
"0000349511" "00017145" "90" "124" "0" "124" "0" "c.124A>G" "r.(?)" "p.(Thr42Ala)" "" "" "" "" "" "" "" "" ""
"0000349528" "00017145" "90" "1403" "0" "1403" "0" "c.1403C>T" "r.(?)" "p.(Thr468Met)" "" "" "" "" "" "" "" "" ""
"0000349554" "00017145" "30" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Thr52=)" "" "" "" "" "" "" "" "" ""
"0000349619" "00017145" "90" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "" "" "" "" "" "" "" "" ""
"0000350022" "00017145" "90" "836" "0" "836" "0" "c.836A>G" "r.(?)" "p.(Tyr279Cys)" "" "" "" "" "" "" "" "" ""
"0000350156" "00017145" "90" "184" "0" "184" "0" "c.184T>G" "r.(?)" "p.(Tyr62Asp)" "" "" "" "" "" "" "" "" ""
"0000350161" "00017145" "90" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "" "" "" "" "" "" "" "" ""
"0000350846" "00017145" "10" "525" "12" "525" "12" "c.525+12G>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000350847" "00017145" "30" "853" "18" "853" "18" "c.853+18G>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000408760" "00017145" "90" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "3" "" "" "" "" "" "" "" ""
"0000546641" "00017145" "50" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Pro9Ser)" "" "" "" "" "" "" "" "" ""
"0000546642" "00017145" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "" "" "" "" "" "" "" "" ""
"0000546643" "00017145" "90" "214" "0" "214" "0" "c.214G>T" "r.(?)" "p.(Ala72Ser)" "" "" "" "" "" "" "" "" ""
"0000546644" "00017145" "90" "227" "0" "227" "0" "c.227A>T" "r.(?)" "p.(Glu76Val)" "" "" "" "" "" "" "" "" ""
"0000546645" "00017145" "30" "255" "0" "255" "0" "c.255C>T" "r.(?)" "p.(His85=)" "" "" "" "" "" "" "" "" ""
"0000546646" "00017145" "90" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Glu110Lys)" "" "" "" "" "" "" "" "" ""
"0000546647" "00017145" "50" "348" "0" "348" "0" "c.348T>G" "r.(?)" "p.(His116Gln)" "" "" "" "" "" "" "" "" ""
"0000546648" "00017145" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "" "" "" "" "" "" "" "" ""
"0000546649" "00017145" "30" "526" "-8" "526" "-8" "c.526-8C>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000546650" "00017145" "30" "558" "0" "558" "0" "c.558G>T" "r.(?)" "p.(Arg186=)" "" "" "" "" "" "" "" "" ""
"0000546651" "00017145" "30" "591" "0" "591" "0" "c.591T>G" "r.(?)" "p.(Tyr197Ter)" "" "" "" "" "" "" "" "" ""
"0000546652" "00017145" "30" "925" "0" "925" "0" "c.925A>G" "r.(?)" "p.(Ile309Val)" "" "" "" "" "" "" "" "" ""
"0000546653" "00017145" "70" "1039" "0" "1039" "0" "c.1039C>A" "r.(?)" "p.(Gln347Lys)" "" "" "" "" "" "" "" "" ""
"0000546654" "00017145" "30" "1093" "-12" "1093" "-12" "c.1093-12G>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000546655" "00017145" "30" "1093" "-7" "1093" "-7" "c.1093-7C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000546656" "00017145" "50" "1225" "-5" "1225" "-5" "c.1225-5T>C" "r.spl?" "p.?" "" "" "" "" "" "" "" "" ""
"0000546657" "00017145" "30" "1290" "0" "1290" "0" "c.1290C>T" "r.(?)" "p.(Ser430=)" "" "" "" "" "" "" "" "" ""
"0000546658" "00017145" "90" "1505" "0" "1505" "0" "c.1505C>T" "r.(?)" "p.(Ser502Leu)" "" "" "" "" "" "" "" "" ""
"0000546659" "00017145" "90" "1510" "0" "1510" "0" "c.1510A>G" "r.(?)" "p.(Met504Val)" "" "" "" "" "" "" "" "" ""
"0000546660" "00017145" "30" "1613" "0" "1613" "0" "c.1613A>G" "r.(?)" "p.(Lys538Arg)" "" "" "" "" "" "" "" "" ""
"0000546661" "00017145" "30" "1658" "0" "1658" "0" "c.1658C>T" "r.(?)" "p.(Thr553Met)" "" "" "" "" "" "" "" "" ""
"0000546662" "00017145" "30" "1658" "0" "1658" "0" "c.1658C>T" "r.(?)" "p.(Thr553Met)" "" "" "" "" "" "" "" "" ""
"0000546663" "00017145" "50" "1690" "0" "1690" "0" "c.1690A>T" "r.(?)" "p.(Thr564Ser)" "" "" "" "" "" "" "" "" ""
"0000546664" "00017145" "30" "1795" "0" "1795" "0" "c.*13A>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000546665" "00017145" "30" "1811" "0" "1811" "0" "c.*29A>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000597248" "00017145" "70" "1472" "0" "1473" "0" "c.1472_1473delinsAT" "r.(?)" "p.(Pro491His)" "" "" "" "" "" "" "" "" ""
"0000604339" "00017145" "90" "317" "0" "317" "0" "c.317A>C" "r.(?)" "p.(Asp106Ala)" "" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" "" ""
"0000613869" "00017145" "90" "181" "0" "181" "0" "c.181G>C" "r.(?)" "p.(Asp61His)" "" "" "" "" "" "" "" "" ""
"0000613870" "00017145" "90" "211" "0" "211" "0" "c.211T>C" "r.(?)" "p.(Phe71Leu)" "" "" "" "" "" "" "" "" ""
"0000613871" "00017145" "90" "417" "0" "417" "0" "c.417G>C" "r.(?)" "p.(Glu139Asp)" "" "" "" "" "" "" "" "" ""
"0000613872" "00017145" "70" "774" "0" "774" "0" "c.774G>C" "r.(?)" "p.(Glu258Asp)" "" "" "" "" "" "" "" "" ""
"0000613873" "00017145" "50" "774" "0" "774" "0" "c.774G>T" "r.(?)" "p.(Glu258Asp)" "" "" "" "" "" "" "" "" ""
"0000613874" "00017145" "90" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265Gln)" "" "" "" "" "" "" "" "" ""
"0000613875" "00017145" "90" "854" "0" "854" "0" "c.854T>C" "r.(?)" "p.(Phe285Ser)" "" "" "" "" "" "" "" "" ""
"0000613876" "00017145" "70" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Val428Met)" "" "" "" "" "" "" "" "" ""
"0000613877" "00017145" "90" "1403" "0" "1403" "0" "c.1403C>T" "r.(?)" "p.(Thr468Met)" "" "" "" "" "" "" "" "" ""
"0000622789" "00017145" "90" "1493" "0" "1493" "0" "c.1493G>T" "r.(?)" "p.(Arg498Leu)" "" "" "" "" "" "" "" "" ""
"0000626225" "00017145" "70" "721" "0" "724" "0" "c.721_724del" "r.(?)" "p.(Asp241Lysfs*97)" "6" "" "" "protein truncation (VariO:0015)" "" "" "" "" ""
"0000648458" "00017145" "70" "235" "0" "235" "0" "c.235C>A" "r.(?)" "p.(Gln79Lys)" "" "" "" "" "" "" "" "" ""
"0000648459" "00017145" "90" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.(Gln79Arg)" "" "" "" "" "" "" "" "" ""
"0000648460" "00017145" "70" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Glu110Lys)" "" "" "" "" "" "" "" "" ""
"0000648461" "00017145" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "" "" "" "" "" "" "" "" ""
"0000648462" "00017145" "30" "643" "-340" "643" "-340" "c.643-340T>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000648463" "00017145" "30" "854" "-223" "854" "-223" "c.854-223C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000656990" "00017145" "90" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Thr2Ile)" "" "" "" "" "" "" "" "" ""
"0000656991" "00017145" "30" "48" "0" "48" "0" "c.48A>G" "r.(?)" "p.(Ala16=)" "" "" "" "" "" "" "" "" ""
"0000656992" "00017145" "90" "166" "0" "166" "0" "c.166A>G" "r.(?)" "p.(Ile56Val)" "" "" "" "" "" "" "" "" ""
"0000656993" "00017145" "50" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Asn58Ser)" "" "" "" "" "" "" "" "" ""
"0000656994" "00017145" "90" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "" "" "" "" "" "" "" "" ""
"0000656995" "00017145" "30" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Arg173Cys)" "" "" "" "" "" "" "" "" ""
"0000656996" "00017145" "30" "537" "0" "537" "0" "c.537C>T" "r.(?)" "p.(Tyr179=)" "" "" "" "" "" "" "" "" ""
"0000656997" "00017145" "50" "810" "0" "810" "0" "c.810G>T" "r.(?)" "p.(Arg270Ser)" "" "" "" "" "" "" "" "" ""
"0000656998" "00017145" "30" "1221" "0" "1221" "0" "c.1221A>G" "r.(?)" "p.(Gly407=)" "" "" "" "" "" "" "" "" ""
"0000656999" "00017145" "50" "1232" "0" "1232" "0" "c.1232C>T" "r.(?)" "p.(Thr411Met)" "" "" "" "" "" "" "" "" ""
"0000657000" "00017145" "70" "1528" "0" "1528" "0" "c.1528C>A" "r.(?)" "p.(Gln510Lys)" "" "" "" "" "" "" "" "" ""
"0000657001" "00017145" "90" "1529" "0" "1529" "0" "c.1529A>C" "r.(?)" "p.(Gln510Pro)" "" "" "" "" "" "" "" "" ""
"0000673989" "00017145" "90" "1517" "0" "1517" "0" "c.1517A>C" "r.(1517a>c)" "p.(Gln506Pro)" "" "" "DNA substitution (VariO:0136);transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308)" "" "" "" ""
"0000675220" "00017145" "70" "853" "1" "853" "1" "c.853+1G>A" "r.spl?" "p.?" "" "" "DNA substitution (VariO:0136)" "" "" "" "" "" ""
"0000679402" "00017145" "90" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Asp61Asn)" "" "" "" "" "" "" "" "" ""
"0000679403" "00017145" "90" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "" "" "" "" "" "" "" "" ""
"0000679404" "00017145" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "" "" "" "" "" "" "" "" ""
"0000679405" "00017145" "30" "526" "-8" "526" "-8" "c.526-8C>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000679406" "00017145" "90" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Asn308Ser)" "" "" "" "" "" "" "" "" ""
"0000691247" "00017145" "30" "486" "0" "486" "0" "c.486C>T" "r.(?)" "p.(Asp162=)" "" "" "" "" "" "" "" "" ""
"0000691248" "00017145" "50" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Trp)" "" "" "" "" "" "" "" "" ""
"0000691249" "00017145" "90" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Gly268Ser)" "" "" "" "" "" "" "" "" ""
"0000691250" "00017145" "90" "1403" "0" "1403" "0" "c.1403C>T" "r.(?)" "p.(Thr468Met)" "" "" "" "" "" "" "" "" ""
"0000691251" "00017145" "90" "1472" "0" "1472" "0" "c.1472C>A" "r.(?)" "p.(Pro491His)" "" "" "" "" "" "" "" "" ""
"0000691252" "00017145" "30" "1599" "4" "1599" "4" "c.1599+4C>T" "r.spl?" "p.?" "" "" "" "" "" "" "" "" ""
"0000694773" "00017145" "90" "836" "0" "836" "0" "c.836A>G" "r.(?)" "p.(Tyr279Cys)" "" "" "" "" "" "" "" "" ""
"0000712176" "00017145" "90" "922" "0" "922" "0" "c.922A>G" "r.(?)" "p.(Asn308Asp)" "" "" "" "" "" "" "" "" ""
"0000712177" "00017145" "70" "1510" "0" "1510" "0" "c.1510A>G" "r.(?)" "p.(Met504Val)" "" "" "" "" "" "" "" "" ""
"0000723838" "00017145" "70" "235" "0" "235" "0" "c.235C>A" "r.(?)" "p.(Gln79Lys)" "" "" "" "" "" "" "" "" ""
"0000723839" "00017145" "30" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(Asp180=)" "" "" "" "" "" "" "" "" ""
"0000723840" "00017145" "90" "836" "0" "836" "0" "c.836A>G" "r.(?)" "p.(Tyr279Cys)" "" "" "" "" "" "" "" "" ""
"0000723841" "00017145" "90" "1502" "0" "1502" "0" "c.1502G>A" "r.(?)" "p.(Arg501Lys)" "" "" "" "" "" "" "" "" ""
"0000723842" "00017145" "90" "1507" "0" "1507" "0" "c.1507G>C" "r.(?)" "p.(Gly503Arg)" "" "" "" "" "" "" "" "" ""
"0000723843" "00017145" "30" "1658" "0" "1658" "0" "c.1658C>T" "r.(?)" "p.(Thr553Met)" "" "" "" "" "" "" "" "" ""
"0000730051" "00017145" "90" "1510" "0" "1510" "0" "c.1510A>G" "r.(?)" "p.(Met504Val)" "" "" "" "" "" "" "" "" ""
"0000792409" "00017145" "50" "1226" "0" "1226" "0" "c.1226G>C" "r.(?)" "p.(Gly409Ala)" "" "" "DNA substitution (VariO:0136)" "nonsynonymous variation (VariO:0017)" "" "" "" "" ""
"0000795657" "00017145" "70" "417" "0" "417" "0" "c.417G>C" "r.(?)" "p.(Glu139Asp)" "" "" "" "" "" "" "" "" ""
"0000805534" "00017145" "50" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Val428Met)" "" "" "" "" "" "" "" "" ""
"0000805535" "00017145" "90" "1471" "0" "1471" "0" "c.1471C>A" "r.(?)" "p.(Pro491Thr)" "" "" "" "" "" "" "" "" ""
"0000805536" "00017145" "30" "1678" "0" "1678" "0" "c.1678C>T" "r.(?)" "p.(Leu560Phe)" "" "" "" "" "" "" "" "" ""
"0000829419" "00017145" "90" "853" "0" "853" "0" "c.853T>C" "r.(?)" "p.(Phe285Leu)" "" "" "transition (VariO:0313)" "nonsynonymous variation (VariO:0017)" "" "" "" "" ""
"0000837045" "00017145" "70" "1507" "0" "1507" "0" "c.1507G>C" "r.(?)" "p.(Gly503Arg)" "" "" "" "" "" "" "" "" ""
"0000853268" "00017145" "50" "29" "0" "29" "0" "c.29A>G" "r.(?)" "p.(Asn10Ser)" "" "" "" "" "" "" "" "" ""
"0000853269" "00017145" "50" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Ala75Val)" "" "" "" "" "" "" "" "" ""
"0000853270" "00017145" "50" "395" "0" "395" "0" "c.395A>G" "r.(?)" "p.(His132Arg)" "" "" "" "" "" "" "" "" ""
"0000853271" "00017145" "30" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(Asp180=)" "" "" "" "" "" "" "" "" ""
"0000853272" "00017145" "30" "756" "11" "756" "11" "c.756+11A>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000853273" "00017145" "90" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Gly268Ser)" "" "" "" "" "" "" "" "" ""
"0000853274" "00017145" "50" "860" "0" "860" "0" "c.860A>C" "r.(?)" "p.(His287Pro)" "" "" "" "" "" "" "" "" ""
"0000853275" "00017145" "90" "922" "0" "922" "0" "c.922A>G" "r.(?)" "p.(Asn308Asp)" "" "" "" "" "" "" "" "" ""
"0000853276" "00017145" "90" "1502" "0" "1502" "0" "c.1502G>A" "r.(?)" "p.(Arg501Lys)" "" "" "" "" "" "" "" "" ""
"0000853277" "00017145" "90" "1502" "0" "1502" "0" "c.1502G>A" "r.(?)" "p.(Arg501Lys)" "" "" "" "" "" "" "" "" ""
"0000862806" "00017145" "50" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Asn58Ser)" "" "" "" "" "" "" "" "" ""
"0000862807" "00017145" "90" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "" "" "" "" "" "" "" "" ""
"0000862808" "00017145" "30" "332" "7" "332" "7" "c.332+7A>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000862809" "00017145" "90" "844" "0" "844" "0" "c.844A>G" "r.(?)" "p.(Ile282Val)" "" "" "" "" "" "" "" "" ""
"0000862810" "00017145" "90" "854" "0" "854" "0" "c.854T>C" "r.(?)" "p.(Phe285Ser)" "" "" "" "" "" "" "" "" ""
"0000862811" "00017145" "90" "922" "0" "922" "0" "c.922A>G" "r.(?)" "p.(Asn308Asp)" "" "" "" "" "" "" "" "" ""
"0000862812" "00017145" "70" "1382" "0" "1382" "0" "c.1382C>G" "r.(?)" "p.(Ala461Gly)" "" "" "" "" "" "" "" "" ""
"0000862813" "00017145" "90" "1472" "0" "1472" "0" "c.1472C>T" "r.(?)" "p.(Pro491Leu)" "" "" "" "" "" "" "" "" ""
"0000862814" "00017145" "90" "1530" "0" "1530" "0" "c.1530G>C" "r.(?)" "p.(Gln510His)" "" "" "" "" "" "" "" "" ""
"0000868878" "00017145" "90" "1517" "0" "1517" "0" "c.1517A>C" "r.(?)" "p.(Gln506Pro)" "" "" "" "" "" "" "" "" ""
"0000868879" "00017145" "90" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "" "" "" "" "" "" "" "" ""
"0000869772" "00017145" "90" "922" "0" "922" "0" "c.922A>G" "r.(?)" "p.(Asn308Asp)" "" "" "" "" "" "" "" "" ""
"0000870596" "00017145" "90" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "" "" "" "" "" "" "" "" ""
"0000872936" "00017145" "90" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Thr2Ile)" "" "" "" "" "" "" "" "" ""
"0000874694" "00017145" "70" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Gly503Arg)" "" "" "" "" "" "" "" "" ""
"0000881193" "00017145" "90" "922" "0" "922" "0" "c.922A>G" "r.(?)" "p.(Asn308Asp)" "" "" "" "" "" "" "" "" ""
"0000881194" "00017145" "90" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "" "" "" "" "" "" "" "" ""
"0000881195" "00017145" "90" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.(Gln79Arg)" "" "" "" "" "" "" "" "" ""
"0000881196" "00017145" "90" "922" "0" "922" "0" "c.922A>G" "r.(?)" "p.(Asn308Asp)" "" "" "" "" "" "" "" "" ""
"0000881197" "00017145" "90" "1507" "0" "1507" "0" "c.1507G>C" "r.(?)" "p.(Gly503Arg)" "" "" "" "" "" "" "" "" ""
"0000881198" "00017145" "90" "1381" "0" "1381" "0" "c.1381G>T" "r.(?)" "p.(Ala461Ser)" "" "" "" "" "" "" "" "" ""
"0000881199" "00017145" "90" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498Trp)" "" "" "" "" "" "" "" "" ""
"0000881200" "00017145" "90" "802" "0" "802" "0" "c.802G>T" "r.(?)" "p.(Gly268Cys)" "" "" "" "" "" "" "" "" ""
"0000890278" "00017145" "70" "166" "0" "166" "0" "c.166A>G" "r.(?)" "p.(Ile56Val)" "" "" "" "" "" "" "" "" ""
"0000890279" "00017145" "10" "332" "17" "332" "17" "c.332+17T>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000890280" "00017145" "50" "401" "0" "401" "0" "c.401G>C" "r.(?)" "p.(Ser134Thr)" "" "" "" "" "" "" "" "" ""
"0000890281" "00017145" "30" "996" "0" "996" "0" "c.996C>T" "r.(?)" "p.(Gly332=)" "" "" "" "" "" "" "" "" ""
"0000890282" "00017145" "50" "1232" "0" "1232" "0" "c.1232C>T" "r.(?)" "p.(Thr411Met)" "" "" "" "" "" "" "" "" ""
"0000890283" "00017145" "90" "1510" "0" "1510" "0" "c.1510A>G" "r.(?)" "p.(Met504Val)" "" "" "" "" "" "" "" "" ""
"0000913748" "00017145" "90" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "" "" "" "" "" "" "" "" ""
"0000913749" "00017145" "10" "255" "0" "255" "0" "c.255C>T" "r.(?)" "p.(His85=)" "" "" "" "" "" "" "" "" ""
"0000913750" "00017145" "30" "332" "17" "332" "17" "c.332+17T>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000913751" "00017145" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "" "" "" "" "" "" "" "" ""
"0000913752" "00017145" "30" "525" "12" "525" "12" "c.525+12G>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000913753" "00017145" "30" "624" "0" "624" "0" "c.624A>G" "r.(?)" "p.(Thr208=)" "" "" "" "" "" "" "" "" ""
"0000913754" "00017145" "90" "661" "0" "661" "0" "c.661A>G" "r.(?)" "p.(Ile221Val)" "" "" "" "" "" "" "" "" ""
"0000913755" "00017145" "50" "1052" "0" "1052" "0" "c.1052G>A" "r.(?)" "p.(Arg351Gln)" "" "" "" "" "" "" "" "" ""
"0000913756" "00017145" "30" "1093" "-9" "1093" "-9" "c.1093-9C>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000913757" "00017145" "70" "1403" "0" "1403" "0" "c.1403C>T" "r.(?)" "p.(Thr468Met)" "" "" "" "" "" "" "" "" ""
"0000913758" "00017145" "70" "1712" "1" "1712" "1" "c.1712+1G>C" "r.spl?" "p.?" "" "" "" "" "" "" "" "" ""
"0000918148" "00017145" "70" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265Gln)" "" "" "transition (VariO:0313)" "nonsynonymous variation (VariO:0017)" "" "" "" "" ""
"0000920415" "00017145" "70" "167" "0" "167" "0" "c.167T>G" "r.(?)" "p.(Ile56Ser)" "" "" "transition (VariO:0313)" "nonsynonymous variation (VariO:0017)" "" "" "" "" ""
"0000921878" "00017145" "90" "417" "0" "417" "0" "c.417G>C" "r.(?)" "p.(Glu139Asp)" "" "" "" "" "" "" "" "" ""
"0000925541" "00017145" "90" "836" "0" "836" "0" "c.836A>G" "r.(?)" "p.(Tyr279Cys)" "" "" "" "" "" "" "" "" ""
"0000925542" "00017145" "90" "853" "0" "853" "0" "c.853T>C" "r.(?)" "p.(Phe285Leu)" "" "" "" "" "" "" "" "" ""
"0000927852" "00017145" "90" "836" "0" "836" "0" "c.836A>G" "r.(?)" "p.(Tyr279Cys)" "" "" "" "" "" "" "" "" ""
"0000930014" "00017145" "70" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "" "" "" "" "" "" "" "" ""
"0000930015" "00017145" "30" "526" "-17" "526" "-17" "c.526-17T>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000930016" "00017145" "30" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(Asp180=)" "" "" "" "" "" "" "" "" ""
"0000930017" "00017145" "50" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Trp)" "" "" "" "" "" "" "" "" ""
"0000930018" "00017145" "90" "1528" "0" "1528" "0" "c.1528C>G" "r.(?)" "p.(Gln510Glu)" "" "" "" "" "" "" "" "" ""
"0000933305" "00017145" "90" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(Lys70Arg)" "" "" "" "" "" "" "" "" ""
"0000949841" "00017145" "90" "172" "0" "172" "0" "c.172A>G" "r.(?)" "p.(Asn58Asp)" "" "" "" "" "" "" "" "" ""
"0000949842" "00017145" "50" "661" "0" "661" "0" "c.661A>G" "r.(?)" "p.(Ile221Val)" "" "" "" "" "" "" "" "" ""
"0000949843" "00017145" "30" "756" "19" "756" "20" "c.756+19_756+20del" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000949844" "00017145" "90" "785" "0" "785" "0" "c.785T>G" "r.(?)" "p.(Leu262Arg)" "" "" "" "" "" "" "" "" ""
"0000949845" "00017145" "70" "853" "0" "853" "0" "c.853T>C" "r.(?)" "p.(Phe285Leu)" "" "" "" "" "" "" "" "" ""
"0000949846" "00017145" "90" "1517" "0" "1517" "0" "c.1517A>C" "r.(?)" "p.(Gln506Pro)" "" "" "" "" "" "" "" "" ""
"0000949847" "00017145" "90" "1529" "0" "1529" "0" "c.1529A>G" "r.(?)" "p.(Gln510Arg)" "" "" "" "" "" "" "" "" ""
"0000949848" "00017145" "50" "1600" "-17" "1600" "-17" "c.1600-17A>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000952225" "00017145" "70" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Val428Met)" "" "" "" "" "" "" "" "" ""
"0000960167" "00017145" "90" "417" "0" "417" "0" "c.417G>C" "r.(?)" "p.(Glu139Asp)" "" "" "" "" "" "" "" "" ""
"0000960169" "00017145" "90" "836" "0" "836" "0" "c.836A>G" "r.(?)" "p.(Tyr279Cys)" "" "" "" "" "" "" "" "" ""
"0000960170" "00017145" "50" "1001" "0" "1001" "0" "c.1001T>A" "r.(?)" "p.(Leu334Gln)" "" "" "" "" "" "" "" "" ""
"0000960172" "00017145" "90" "417" "0" "417" "0" "c.417G>C" "r.(?)" "p.(Glu139Asp)" "" "" "" "" "" "" "" "" ""
"0000960173" "00017145" "90" "836" "0" "836" "0" "c.836A>G" "r.(?)" "p.(Tyr279Cys)" "" "" "" "" "" "" "" "" ""
"0000966719" "00017145" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "" "" "" "" "" "" "" "" ""
"0000966720" "00017145" "90" "215" "0" "215" "0" "c.215C>G" "r.(?)" "p.(Ala72Gly)" "" "" "" "" "" "" "" "" ""
"0000966721" "00017145" "30" "486" "0" "486" "0" "c.486C>T" "r.(?)" "p.(Asp162=)" "" "" "" "" "" "" "" "" ""
"0000966722" "00017145" "30" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(Asp180=)" "" "" "" "" "" "" "" "" ""
"0000966723" "00017145" "50" "661" "0" "661" "0" "c.661A>T" "r.(?)" "p.(Ile221Leu)" "" "" "" "" "" "" "" "" ""
"0000966724" "00017145" "90" "855" "0" "855" "0" "c.855T>G" "r.(?)" "p.(Phe285Leu)" "" "" "" "" "" "" "" "" ""
"0000966725" "00017145" "90" "922" "0" "922" "0" "c.922A>G" "r.(?)" "p.(Asn308Asp)" "" "" "" "" "" "" "" "" ""
"0000966726" "00017145" "10" "1379" "20" "1379" "20" "c.1379+20C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000980013" "00017145" "90" "417" "0" "417" "0" "c.417G>C" "r.(?)" "p.(Glu139Asp)" "" "" "" "" "" "" "" "" ""
"0000980014" "00017145" "50" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Trp)" "" "" "" "" "" "" "" "" ""
"0000980015" "00017145" "30" "616" "0" "616" "0" "c.616T>C" "r.(?)" "p.(Leu206=)" "" "" "" "" "" "" "" "" ""
"0000980016" "00017145" "30" "990" "0" "990" "0" "c.990A>C" "r.(?)" "p.(Thr330=)" "" "" "" "" "" "" "" "" ""
"0000980017" "00017145" "90" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Arg351Ter)" "" "" "" "" "" "" "" "" ""
"0000980018" "00017145" "50" "1190" "0" "1190" "0" "c.1190C>T" "r.(?)" "p.(Thr397Met)" "" "" "" "" "" "" "" "" ""
"0000980019" "00017145" "30" "1380" "-5" "1380" "-5" "c.1380-5C>T" "r.spl?" "p.?" "" "" "" "" "" "" "" "" ""
"0000980020" "00017145" "50" "1421" "0" "1421" "0" "c.1421T>C" "r.(?)" "p.(Ile474Thr)" "" "" "" "" "" "" "" "" ""
"0000980021" "00017145" "30" "1620" "0" "1620" "0" "c.1620C>T" "r.(?)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000980022" "00017145" "10" "1658" "0" "1658" "0" "c.1658C>T" "r.(?)" "p.(Thr553Met)" "" "" "" "" "" "" "" "" ""
"0000980023" "00017145" "50" "1691" "0" "1691" "0" "c.1691C>G" "r.(?)" "p.(Thr564Ser)" "" "" "" "" "" "" "" "" ""
"0000984911" "00017145" "50" "879" "0" "879" "0" "c.879C>G" "r.(?)" "p.(His293Gln)" "" "" "" "" "" "" "" "" ""
"0000999632" "00017145" "50" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Arg4Gln)" "" "" "" "" "" "" "" "" ""
"0000999634" "00017145" "30" "15" "-20" "15" "-20" "c.15-20A>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000999635" "00017145" "50" "64" "0" "64" "0" "c.64A>G" "r.(?)" "p.(Thr22Ala)" "" "" "" "" "" "" "" "" ""
"0000999636" "00017145" "90" "166" "0" "166" "0" "c.166A>G" "r.(?)" "p.(Ile56Val)" "" "" "" "" "" "" "" "" ""
"0000999637" "00017145" "90" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "" "" "" "" "" "" "" "" ""
"0000999638" "00017145" "90" "228" "0" "228" "0" "c.228G>C" "r.(?)" "p.(Glu76Asp)" "" "" "" "" "" "" "" "" ""
"0000999639" "00017145" "90" "417" "0" "417" "0" "c.417G>T" "r.(?)" "p.(Glu139Asp)" "" "" "" "" "" "" "" "" ""
"0000999640" "00017145" "90" "767" "0" "767" "0" "c.767A>G" "r.(?)" "p.(Gln256Arg)" "" "" "" "" "" "" "" "" ""
"0000999641" "00017145" "50" "893" "0" "893" "0" "c.893A>G" "r.(?)" "p.(Asn298Ser)" "" "" "" "" "" "" "" "" ""
"0000999642" "00017145" "30" "1092" "9" "1092" "9" "c.1092+9C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0000999643" "00017145" "50" "1211" "0" "1211" "0" "c.1211C>T" "r.(?)" "p.(Ser404Leu)" "" "" "" "" "" "" "" "" ""
"0000999644" "00017145" "50" "1226" "0" "1226" "0" "c.1226G>C" "r.(?)" "p.(Gly409Ala)" "" "" "" "" "" "" "" "" ""
"0000999645" "00017145" "50" "1274" "0" "1274" "0" "c.1274A>T" "r.(?)" "p.(Asp425Val)" "" "" "" "" "" "" "" "" ""
"0000999646" "00017145" "90" "1510" "0" "1510" "0" "c.1510A>G" "r.(?)" "p.(Met504Val)" "" "" "" "" "" "" "" "" ""
"0000999647" "00017145" "50" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Cys569Tyr)" "" "" "" "" "" "" "" "" ""
"0000999648" "00017145" "50" "1713" "-1" "1713" "-1" "c.1713-1G>C" "r.spl?" "p.?" "" "" "" "" "" "" "" "" ""
"0001014904" "00017145" "30" "14" "21" "14" "21" "c.14+21C>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0001014905" "00017145" "90" "214" "0" "214" "0" "c.214G>T" "r.(?)" "p.(Ala72Ser)" "" "" "" "" "" "" "" "" ""
"0001014906" "00017145" "90" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "" "" "" "" "" "" "" "" ""
"0001014907" "00017145" "90" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265Gln)" "" "" "" "" "" "" "" "" ""
"0001014908" "00017145" "50" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Pro300Ser)" "" "" "" "" "" "" "" "" ""
"0001014909" "00017145" "50" "1124" "0" "1124" "0" "c.1124A>G" "r.(?)" "p.(Tyr375Cys)" "" "" "" "" "" "" "" "" ""
"0001014910" "00017145" "30" "1467" "0" "1467" "0" "c.1467C>T" "r.(?)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0001014911" "00017145" "30" "1814" "16" "1814" "16" "c.*32+16T>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0001026100" "00017145" "50" "119" "0" "119" "0" "c.119A>G" "r.(?)" "p.(Asp40Gly)" "" "" "" "" "" "" "" "" ""
"0001026101" "00017145" "90" "836" "0" "836" "0" "c.836A>C" "r.(?)" "p.(Tyr279Ser)" "" "" "" "" "" "" "" "" ""
"0001026102" "00017145" "90" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Asn308Ser)" "" "" "" "" "" "" "" "" ""
"0001026103" "00017145" "50" "1235" "0" "1235" "0" "c.1235A>G" "r.(?)" "p.(Glu412Gly)" "" "" "" "" "" "" "" "" ""
"0001026104" "00017145" "30" "1379" "27" "1379" "27" "c.1379+27C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" ""
"0001026105" "00017145" "90" "1504" "0" "1504" "0" "c.1504T>A" "r.(?)" "p.(Ser502Thr)" "" "" "" "" "" "" "" "" ""
"0001038954" "00017145" "50" "85" "0" "85" "0" "c.85T>G" "r.(?)" "p.(Phe29Val)" "" "" "" "" "" "" "" "" ""
"0001038955" "00017145" "90" "124" "0" "124" "0" "c.124A>G" "r.(?)" "p.(Thr42Ala)" "" "" "" "" "" "" "" "" ""
"0001038956" "00017145" "70" "642" "2" "642" "2" "c.642+2T>G" "r.spl?" "p.?" "" "" "" "" "" "" "" "" ""
"0001038957" "00017145" "90" "802" "0" "802" "0" "c.802G>T" "r.(?)" "p.(Gly268Cys)" "" "" "" "" "" "" "" "" ""
"0001038958" "00017145" "90" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Asn308Ser)" "" "" "" "" "" "" "" "" ""
"0001038959" "00017145" "50" "1181" "0" "1181" "0" "c.1181A>G" "r.(?)" "p.(His394Arg)" "" "" "" "" "" "" "" "" ""
"0001038960" "00017145" "90" "1504" "0" "1504" "0" "c.1504T>G" "r.(?)" "p.(Ser502Ala)" "" "" "" "" "" "" "" "" ""
"0001038961" "00017145" "90" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Gly503Arg)" "" "" "" "" "" "" "" "" ""
"0001038962" "00017145" "90" "1529" "0" "1529" "0" "c.1529A>G" "r.(?)" "p.(Gln510Arg)" "" "" "" "" "" "" "" "" ""
"0001044738" "00017145" "90" "1507" "0" "1507" "0" "c.1507G>C" "r.(?)" "p.(Gly503Arg)" "" "" "" "" "" "" "" "" ""
"0001046345" "00017145" "30" "558" "0" "558" "0" "c.558G>T" "r.(?)" "p.(Arg186=)" "" "" "" "" "" "" "" "" ""
"0001046346" "00017145" "30" "558" "0" "558" "0" "c.558G>T" "r.(?)" "p.(Arg186=)" "" "" "" "" "" "" "" "" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 309
"{{screeningid}}" "{{variantid}}"
"0000016545" "0000036402"
"0000044090" "0000071905"
"0000044091" "0000071906"
"0000044092" "0000071907"
"0000044094" "0000071908"
"0000044095" "0000071909"
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"0000050539" "0000079519"
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"0000079987" "0000128862"
"0000079988" "0000128863"
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"0000080298" "0000129256"
"0000080299" "0000129257"
"0000080300" "0000129258"
"0000080301" "0000129259"
"0000080302" "0000129260"
"0000080303" "0000129261"
"0000080304" "0000129262"
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"0000080312" "0000129270"
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"0000080324" "0000129282"
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"0000080344" "0000129302"
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"0000080363" "0000129321"
"0000080364" "0000129322"
"0000080365" "0000129323"
"0000080366" "0000129324"
"0000080367" "0000129325"
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"0000080369" "0000129327"
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"0000080373" "0000129331"
"0000080374" "0000129332"
"0000080375" "0000129333"
"0000080376" "0000129334"
"0000080377" "0000129335"
"0000080378" "0000129336"
"0000080379" "0000129337"
"0000080380" "0000129338"
"0000080381" "0000129339"
"0000080382" "0000129340"
"0000080383" "0000129341"
"0000080384" "0000129342"
"0000080385" "0000129343"
"0000080386" "0000129344"
"0000080387" "0000129345"
"0000080388" "0000129346"
"0000080389" "0000129347"
"0000080390" "0000129348"
"0000080391" "0000129349"
"0000080392" "0000129350"
"0000080393" "0000129351"
"0000080394" "0000129352"
"0000080395" "0000129353"
"0000080396" "0000129354"
"0000080397" "0000129355"
"0000080398" "0000129356"
"0000080399" "0000129357"
"0000080400" "0000129358"
"0000080401" "0000129359"
"0000080402" "0000129360"
"0000080403" "0000129361"
"0000080404" "0000129362"
"0000080405" "0000129363"
"0000080406" "0000129364"
"0000080407" "0000129365"
"0000080408" "0000129366"
"0000080409" "0000129367"
"0000080410" "0000129368"
"0000080411" "0000129369"
"0000080412" "0000129370"
"0000080413" "0000129371"
"0000080414" "0000129372"
"0000080415" "0000129373"
"0000080416" "0000129374"
"0000080417" "0000129375"
"0000080418" "0000129376"
"0000080419" "0000129377"
"0000080420" "0000129378"
"0000080421" "0000129379"
"0000080422" "0000129380"
"0000080423" "0000129381"
"0000080424" "0000129382"
"0000080425" "0000129383"
"0000080426" "0000129384"
"0000080427" "0000129385"
"0000080428" "0000129386"
"0000080429" "0000129387"
"0000080430" "0000129388"
"0000080431" "0000129389"
"0000080432" "0000129390"
"0000080433" "0000129391"
"0000080434" "0000129392"
"0000080435" "0000129393"
"0000080436" "0000129394"
"0000080437" "0000129395"
"0000080438" "0000129396"
"0000080439" "0000129397"
"0000080440" "0000129398"
"0000080441" "0000129399"
"0000080442" "0000129400"
"0000080443" "0000129401"
"0000080444" "0000129402"
"0000080445" "0000129403"
"0000080446" "0000129404"
"0000080447" "0000129405"
"0000080448" "0000129406"
"0000080449" "0000129407"
"0000080450" "0000129408"
"0000080451" "0000129409"
"0000080452" "0000129410"
"0000080453" "0000129411"
"0000080454" "0000129412"
"0000080455" "0000129413"
"0000080456" "0000129414"
"0000080457" "0000129415"
"0000080458" "0000129416"
"0000080459" "0000129417"
"0000080460" "0000129418"
"0000080461" "0000129419"
"0000080462" "0000129420"
"0000080463" "0000129421"
"0000080464" "0000129422"
"0000080465" "0000129423"
"0000080466" "0000129424"
"0000080467" "0000129425"
"0000080468" "0000129426"
"0000080469" "0000129427"
"0000080470" "0000129428"
"0000080471" "0000129429"
"0000080472" "0000129430"
"0000080473" "0000129431"
"0000080474" "0000129432"
"0000080475" "0000129433"
"0000080476" "0000129434"
"0000080477" "0000129435"
"0000080478" "0000129436"
"0000080479" "0000129437"
"0000080480" "0000129438"
"0000080481" "0000129439"
"0000080482" "0000129440"
"0000080483" "0000129441"
"0000080484" "0000129442"
"0000080485" "0000129443"
"0000080486" "0000129444"
"0000080487" "0000129445"
"0000080488" "0000129446"
"0000080489" "0000129447"
"0000080490" "0000129448"
"0000080491" "0000129449"
"0000080492" "0000129450"
"0000080493" "0000129451"
"0000080494" "0000129452"
"0000080495" "0000129453"
"0000080496" "0000129454"
"0000080497" "0000129455"
"0000080498" "0000129456"
"0000080499" "0000129457"
"0000080500" "0000129458"
"0000080501" "0000129459"
"0000080502" "0000129460"
"0000080503" "0000129461"
"0000080504" "0000129462"
"0000080505" "0000129463"
"0000080506" "0000129464"
"0000080507" "0000129465"
"0000080508" "0000129466"
"0000080509" "0000129467"
"0000080510" "0000129468"
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"0000080512" "0000129470"
"0000080513" "0000129471"
"0000080514" "0000129472"
"0000080515" "0000129473"
"0000080516" "0000129474"
"0000080517" "0000129475"
"0000080518" "0000129476"
"0000080519" "0000129477"
"0000080520" "0000129478"
"0000080521" "0000129479"
"0000080522" "0000129480"
"0000080523" "0000129481"
"0000080524" "0000129482"
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"0000080526" "0000129484"
"0000080527" "0000129485"
"0000080528" "0000129486"
"0000080529" "0000129487"
"0000080530" "0000129488"
"0000080531" "0000129489"
"0000080532" "0000129490"
"0000080533" "0000129491"
"0000080534" "0000129492"
"0000080535" "0000129493"
"0000081123" "0000130209"
"0000081887" "0000132590"
"0000081888" "0000132591"
"0000081889" "0000132592"
"0000081890" "0000132593"
"0000103713" "0000167207"
"0000184637" "0000408760"
"0000266549" "0000597248"
"0000270569" "0000604339"
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"0000291771" "0000648460"
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"0000291773" "0000648462"
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"0000313047" "0000694773"
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"0000328250" "0000712176"
"0000328250" "0000712177"
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"0000328314" "0000960169"
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"0000328354" "0000960173"
"0000332769" "0000730051"
"0000379269" "0000792409"
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"0000397444" "0000829419"
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"0000416566" "0000874694"
"0000420834" "0000881193"
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"0000420836" "0000881195"
"0000420837" "0000881196"
"0000420838" "0000881197"
"0000420839" "0000881198"
"0000420840" "0000881199"
"0000420841" "0000881200"
"0000432609" "0000918148"
"0000434610" "0000920415"
"0000435705" "0000921878"
"0000445311" "0000952225"
"0000451131" "0000984911"